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1. Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.

Author

Alves, C, Sidpra, J, Manteghinejad, A, Sudhakar, S, Massey, F, Aldinger, K, Haldipur, P, Lucato, L, Ferraciolli, S, Teixeira, S, Öztekin, Ö, Bhattacharya, D, Taranath, A, Prabhu, S, Mirsky, D, Andronikou, S, Millen, K, Barkovich, Anthony, Boltshauser, E, Dobyns, W, Barkovich, Matthew, Whitehead, M, and Mankad, K

Subjects
Humans, Dandy-Walker Syndrome, Retrospective Studies, Hydrocephalus, Nervous System Malformations, Brain Stem, Prognosis
Abstract

BACKGROUND AND PURPOSE: Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact. MATERIALS AND METHODS: In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement. RESULTS: There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures only (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality. CONCLUSIONS: Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.

Published
2023

2. Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.

Author

Whitehead, M, Barkovich, M, Sidpra, J, Alves, C, Mirsky, D, Öztekin, Ö, Bhattacharya, D, Lucato, L, Sudhakar, S, Taranath, A, Andronikou, S, Prabhu, S, Aldinger, K, Haldipur, P, Millen, K, Boltshauser, E, Dobyns, W, Mankad, K, and Barkovich, Anthony

Subjects
Humans, Retrospective Studies, Dandy-Walker Syndrome, Cerebellum, Cysts, Neuroimaging, Magnetic Resonance Imaging, Cranial Fossa, Posterior
Abstract

BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development. MATERIALS AND METHODS: In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses. RESULTS: Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (P  .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (P  .07). CONCLUSIONS: As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.

Published
2022

3. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Author

Valente, E M, Brancat, F, Silhavy, J L, Castori, M, March, S E, Barrano, G, Bertini, E, Boltshauser, E, Zaki, M S, Abdel-Aleem, A, Abdel-Salam, GMH, Bellacchlo, E, Battini, R, Cruse, R P, Dobyns, W B, Krishnamoorthy, K S, Lagier-Tourenne, C, Magee, A, Pascual-Castroviejo, I, Salpietro, C D, Sarco, D, Dallapiccola, B, and Gleeson, J G

Abstract

Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. Methods: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. Results: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. Interpretation AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.

Published
2006

11. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Author

Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, and Muenke, M

Published
2009
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21. Costello syndrome: Clinical phenotype, genotype, and management guidelines

Author

Gripp, KW, Morse, LA, Axelrad, M, Chatfield, KC, Chidekel, A, Dobyns, W, Doyle, D, Kerr, B, Lin, AE, Schwartz, DD, Sibbles, BJ, Siegel, D, Shankar, SP, Stevenson, DA, Thacker, MM, Weaver, KN, White, SM, Rauen, KA, Gripp, KW, Morse, LA, Axelrad, M, Chatfield, KC, Chidekel, A, Dobyns, W, Doyle, D, Kerr, B, Lin, AE, Schwartz, DD, Sibbles, BJ, Siegel, D, Shankar, SP, Stevenson, DA, Thacker, MM, Weaver, KN, White, SM, and Rauen, KA

Abstract

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.

Published
2019

29. Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription

Author

El-Saafin, F, Curry, C, Ye, T, Garnier, J-M, Kolb-Cheynel, I, Stierle, M, Downer, NL, Dixon, MP, Negroni, L, Berger, I, Thomas, T, Voss, AK, Dobyns, W, Devys, D, Tora, L, El-Saafin, F, Curry, C, Ye, T, Garnier, J-M, Kolb-Cheynel, I, Stierle, M, Downer, NL, Dixon, MP, Negroni, L, Berger, I, Thomas, T, Voss, AK, Dobyns, W, Devys, D, and Tora, L

Abstract

The human general transcription factor TFIID is composed of the TATA-binding protein (TBP) and 13 TBP-associated factors (TAFs). In eukaryotic cells, TFIID is thought to nucleate RNA polymerase II (Pol II) preinitiation complex formation on all protein coding gene promoters and thus, be crucial for Pol II transcription. In a child with intellectual disability, mild microcephaly, corpus callosum agenesis and poor growth, we identified a homozygous splice-site mutation in TAF8 (NM_138572.2: c.781-1G > A). Our data indicate that the patient's mutation generates a frame shift and an unstable TAF8 mutant protein with an unrelated C-terminus. The mutant TAF8 protein could not be detected in extracts from the patient's fibroblasts, indicating a loss of TAF8 function and that the mutation is most likely causative. Moreover, our immunoprecipitation and proteomic analyses show that in patient cells only partial TAF complexes exist and that the formation of the canonical TFIID is impaired. In contrast, loss of TAF8 in mouse embryonic stem cells and blastocysts leads to cell death and to a global decrease in Pol II transcription. Astonishingly however, in human TAF8 patient cells, we could not detect any cellular phenotype, significant changes in genome-wide Pol II occupancy and pre-mRNA transcription. Thus, the disorganization of the essential holo-TFIID complex did not affect global Pol II transcription in the patient's fibroblasts. Our observations further suggest that partial TAF complexes, and/or an altered TFIID containing a mutated TAF8, could support human development and thus, the absence of holo-TFIID is less deleterious for transcription than originally predicted.

Published
2018

30. 794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome

Author

Vabres, P., primary, Sorlin, A., additional, Kholmanskikh, S., additional, Duffourd, Y., additional, Kuentz, P., additional, Carmignac, V., additional, Bessis, D., additional, Dobyns, W., additional, Polubothu, S., additional, Faravelli, F., additional, Kinsler, V., additional, Faivre, L., additional, Ross, M., additional, and Rivière, J., additional

Published
2018
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31. Abstracts from Hydrocephalus 2016.

Author

Adam, A, Robison, J, Lu, J, Jose, R, Badran, N, Vivas-Buitrago, T, Rigamonti, D, Sattar, A, Omoush, O, Hammad, M, Dawood, M, Maghaslah, M, Belcher, T, Carson, K, Hoffberger, J, Jusué Torres, I, Foley, S, Yasar, S, Thai, Q A, Wemmer, J, Klinge, P, Al-Mutawa, L, Al-Ghamdi, H, Carson, K A, Asgari, M, de Zélicourt, D, Kurtcuoglu, V, Garnotel, S, Salmon, S, Balédent, O, Lokossou, A, Page, G, Balardy, L, Czosnyka, Z, Payoux, P, Schmidt, E A, Zitoun, M, Sevestre, M A, Alperin, N, Baudracco, I, Craven, C, Matloob, S, Thompson, S, Haylock Vize, P, Thorne, L, Watkins, L D, Toma, A K, Bechter, Karl, Pong, A C, Jugé, L, Bilston, L E, Cheng, S, Bradley, W, Hakim, F, Ramón, J F, Cárdenas, M F, Davidson, J S, García, C, González, D, Bermúdez, S, Useche, N, Mejía, J A, Mayorga, P, Cruz, F, Martinez, C, Matiz, M C, Vallejo, M, Ghotme, K, Soto, H A, Riveros, D, Buitrago, A, Mora, M, Murcia, L, Bermudez, S, Cohen, D, Dasgupta, D, Curtis, C, Domínguez, L, Remolina, A J, Grijalba, M A, Whitehouse, K J, Edwards, R J, Eleftheriou, A, Lundin, F, Fountas, K N, Kapsalaki, E Z, Smisson, H F, Robinson, J S, Fritsch, M J, Arouk, W, Garzon, M, Kang, M, Sandhu, K, Baghawatti, D, Aquilina, K, James, G, Thompson, D, Gehlen, M, Schmid Daners, M, Eklund, A, Malm, J, Gomez, D, Guerra, M, Jara, M, Flores, M, Vío, K, Moreno, I, Rodríguez, S, Ortega, E, Rodríguez, E M, McAllister, J P, Guerra, M M, Morales, D M, Sival, D, Jimenez, A, Limbrick, D D, Ishikawa, M, Yamada, S, Yamamoto, K, Junkkari, A, Häyrinen, A, Rauramaa, T, Sintonen, H, Nerg, O, Koivisto, A M, Roine, R P, Viinamäki, H, Soininen, H, Luikku, A, Jääskeläinen, J E, Leinonen, V, Kehler, U, Lilja-Lund, O, Kockum, K, Larsson, Elna-Marie, Riklund, K, Söderström, L, Hellström, P, Laurell, K, Kojoukhova, M, Sutela, A, Vanninen, R, Vanha, K I, Timonen, M, Rummukainen, J, Korhonen, V, Helisalmi, S, Solje, E, Remes, A M, Huovinen, J, Paananen, J, Hiltunen, M, Kurki, M, Martin, B, Loth, F, Luciano, M, Luikku, A J, Hall, A, Herukka, S K, Mattila, J, Lötjönen, J, Alafuzoff, Irina, Jurjević, I, Miyajima, M, Nakajima, M, Murai, H, Shin, T, Kawaguchi, D, Akiba, C, Ogino, I, Karagiozov, K, Arai, H, Reis, R C, Teixeira, M J, Valêncio, C G, da Vigua, D, Almeida-Lopes, L, Mancini, M W, Pinto, F C G, Maykot, R H, Calia, G, Tornai, J, Silvestre, S S S, Mendes, G, Sousa, V, Bezerra, B, Dutra, P, Modesto, P, Oliveira, M F, Petitto, C E, Pulhorn, H, Chandran, A, McMahon, C, Rao, A S, Jumaly, M, Solomon, D, Moghekar, A, Relkin, N, Hamilton, M, Katzen, H, Williams, M, Bach, T, Zuspan, S, Holubkov, R, Rigamonti, A, Clemens, G, Sharkey, P, Sanyal, A, Sankey, E, Rigamonti, K, Naqvi, S, Hung, A, Schmidt, E, Ory-Magne, F, Gantet, P, Guenego, A, Januel, A C, Tall, P, Fabre, N, Mahieu, L, Cognard, C, Gray, L, Buttner-Ennever, J A, Takagi, K, Onouchi, K, Thompson, S D, Thorne, L D, Tully, H M, Wenger, T L, Kukull, W A, Doherty, D, Dobyns, W B, Moran, D, Vakili, S, Patel, M A, Elder, B, Goodwin, C R, Crawford, J A, Pletnikov, M V, Xu, J, Blitz, A, Herzka, D A, Guerrero-Cazares, H, Quiñones-Hinojosa, A, Mori, S, Saavedra, P, Treviño, H, Maitani, K, Ziai, W C, Eslami, V, Nekoovaght-Tak, S, Dlugash, R, Yenokyan, G, McBee, N, Hanley, D F, Adam, A, Robison, J, Lu, J, Jose, R, Badran, N, Vivas-Buitrago, T, Rigamonti, D, Sattar, A, Omoush, O, Hammad, M, Dawood, M, Maghaslah, M, Belcher, T, Carson, K, Hoffberger, J, Jusué Torres, I, Foley, S, Yasar, S, Thai, Q A, Wemmer, J, Klinge, P, Al-Mutawa, L, Al-Ghamdi, H, Carson, K A, Asgari, M, de Zélicourt, D, Kurtcuoglu, V, Garnotel, S, Salmon, S, Balédent, O, Lokossou, A, Page, G, Balardy, L, Czosnyka, Z, Payoux, P, Schmidt, E A, Zitoun, M, Sevestre, M A, Alperin, N, Baudracco, I, Craven, C, Matloob, S, Thompson, S, Haylock Vize, P, Thorne, L, Watkins, L D, Toma, A K, Bechter, Karl, Pong, A C, Jugé, L, Bilston, L E, Cheng, S, Bradley, W, Hakim, F, Ramón, J F, Cárdenas, M F, Davidson, J S, García, C, González, D, Bermúdez, S, Useche, N, Mejía, J A, Mayorga, P, Cruz, F, Martinez, C, Matiz, M C, Vallejo, M, Ghotme, K, Soto, H A, Riveros, D, Buitrago, A, Mora, M, Murcia, L, Bermudez, S, Cohen, D, Dasgupta, D, Curtis, C, Domínguez, L, Remolina, A J, Grijalba, M A, Whitehouse, K J, Edwards, R J, Eleftheriou, A, Lundin, F, Fountas, K N, Kapsalaki, E Z, Smisson, H F, Robinson, J S, Fritsch, M J, Arouk, W, Garzon, M, Kang, M, Sandhu, K, Baghawatti, D, Aquilina, K, James, G, Thompson, D, Gehlen, M, Schmid Daners, M, Eklund, A, Malm, J, Gomez, D, Guerra, M, Jara, M, Flores, M, Vío, K, Moreno, I, Rodríguez, S, Ortega, E, Rodríguez, E M, McAllister, J P, Guerra, M M, Morales, D M, Sival, D, Jimenez, A, Limbrick, D D, Ishikawa, M, Yamada, S, Yamamoto, K, Junkkari, A, Häyrinen, A, Rauramaa, T, Sintonen, H, Nerg, O, Koivisto, A M, Roine, R P, Viinamäki, H, Soininen, H, Luikku, A, Jääskeläinen, J E, Leinonen, V, Kehler, U, Lilja-Lund, O, Kockum, K, Larsson, Elna-Marie, Riklund, K, Söderström, L, Hellström, P, Laurell, K, Kojoukhova, M, Sutela, A, Vanninen, R, Vanha, K I, Timonen, M, Rummukainen, J, Korhonen, V, Helisalmi, S, Solje, E, Remes, A M, Huovinen, J, Paananen, J, Hiltunen, M, Kurki, M, Martin, B, Loth, F, Luciano, M, Luikku, A J, Hall, A, Herukka, S K, Mattila, J, Lötjönen, J, Alafuzoff, Irina, Jurjević, I, Miyajima, M, Nakajima, M, Murai, H, Shin, T, Kawaguchi, D, Akiba, C, Ogino, I, Karagiozov, K, Arai, H, Reis, R C, Teixeira, M J, Valêncio, C G, da Vigua, D, Almeida-Lopes, L, Mancini, M W, Pinto, F C G, Maykot, R H, Calia, G, Tornai, J, Silvestre, S S S, Mendes, G, Sousa, V, Bezerra, B, Dutra, P, Modesto, P, Oliveira, M F, Petitto, C E, Pulhorn, H, Chandran, A, McMahon, C, Rao, A S, Jumaly, M, Solomon, D, Moghekar, A, Relkin, N, Hamilton, M, Katzen, H, Williams, M, Bach, T, Zuspan, S, Holubkov, R, Rigamonti, A, Clemens, G, Sharkey, P, Sanyal, A, Sankey, E, Rigamonti, K, Naqvi, S, Hung, A, Schmidt, E, Ory-Magne, F, Gantet, P, Guenego, A, Januel, A C, Tall, P, Fabre, N, Mahieu, L, Cognard, C, Gray, L, Buttner-Ennever, J A, Takagi, K, Onouchi, K, Thompson, S D, Thorne, L D, Tully, H M, Wenger, T L, Kukull, W A, Doherty, D, Dobyns, W B, Moran, D, Vakili, S, Patel, M A, Elder, B, Goodwin, C R, Crawford, J A, Pletnikov, M V, Xu, J, Blitz, A, Herzka, D A, Guerrero-Cazares, H, Quiñones-Hinojosa, A, Mori, S, Saavedra, P, Treviño, H, Maitani, K, Ziai, W C, Eslami, V, Nekoovaght-Tak, S, Dlugash, R, Yenokyan, G, McBee, N, and Hanley, D F

Published
2017
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32. OP14.08: Prenatal diagnosis of a new cobblestone malformation complex disorder: Walker-Warburg syndrome associated with tectocerebellar dysraphia

Author

Leibovitz, Z., primary, Mandel, H., additional, Falik-Zaccai, T., additional, Ben Harouch, S., additional, Savitzki, D., additional, Bakry, H., additional, Sagie, S., additional, Haratz, K.K., additional, Tamarkin, M., additional, Lev, D., additional, Dobyns, W., additional, Lerman-Sagie, T., additional, and Gindes, L., additional

Published
2017
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33. Abstracts from Hydrocephalus 2016

Author

Adam, A., primary, Robison, J., additional, Lu, J., additional, Jose, R., additional, Badran, N., additional, Vivas-Buitrago, T., additional, Rigamonti, D., additional, Sattar, A., additional, Omoush, O., additional, Hammad, M., additional, Dawood, M., additional, Maghaslah, M., additional, Belcher, T., additional, Carson, K., additional, Hoffberger, J., additional, Jusué Torres, I., additional, Foley, S., additional, Yasar, S., additional, Thai, Q. A., additional, Wemmer, J., additional, Klinge, P., additional, Al-Mutawa, L., additional, Al-Ghamdi, H., additional, Carson, K. A., additional, Asgari, M., additional, de Zélicourt, D., additional, Kurtcuoglu, V., additional, Garnotel, S., additional, Salmon, S., additional, Balédent, O., additional, Lokossou, A., additional, Page, G., additional, Balardy, L., additional, Czosnyka, Z., additional, Payoux, P., additional, Schmidt, E. A., additional, Zitoun, M., additional, Sevestre, M. A., additional, Alperin, N., additional, Baudracco, I., additional, Craven, C., additional, Matloob, S., additional, Thompson, S., additional, Haylock Vize, P., additional, Thorne, L., additional, Watkins, L. D., additional, Toma, A. K., additional, Bechter, Karl, additional, Pong, A. C., additional, Jugé, L., additional, Bilston, L. E., additional, Cheng, S., additional, Bradley, W., additional, Hakim, F., additional, Ramón, J. F., additional, Cárdenas, M. F., additional, Davidson, J. S., additional, García, C., additional, González, D., additional, Bermúdez, S., additional, Useche, N., additional, Mejía, J. A., additional, Mayorga, P., additional, Cruz, F., additional, Martinez, C., additional, Matiz, M. C., additional, Vallejo, M., additional, Ghotme, K., additional, Soto, H. A., additional, Riveros, D., additional, Buitrago, A., additional, Mora, M., additional, Murcia, L., additional, Bermudez, S., additional, Cohen, D., additional, Dasgupta, D., additional, Curtis, C., additional, Domínguez, L., additional, Remolina, A. J., additional, Grijalba, M. A., additional, Whitehouse, K. J., additional, Edwards, R. J., additional, Eleftheriou, A., additional, Lundin, F., additional, Fountas, K. N., additional, Kapsalaki, E. Z., additional, Smisson, H. F., additional, Robinson, J. S., additional, Fritsch, M. J., additional, Arouk, W., additional, Garzon, M., additional, Kang, M., additional, Sandhu, K., additional, Baghawatti, D., additional, Aquilina, K., additional, James, G., additional, Thompson, D., additional, Gehlen, M., additional, Schmid Daners, M., additional, Eklund, A., additional, Malm, J., additional, Gomez, D., additional, Guerra, M., additional, Jara, M., additional, Flores, M., additional, Vío, K., additional, Moreno, I., additional, Rodríguez, S., additional, Ortega, E., additional, Rodríguez, E. M., additional, McAllister, J. P., additional, Guerra, M. M., additional, Morales, D. M., additional, Sival, D., additional, Jimenez, A., additional, Limbrick, D. D., additional, Ishikawa, M., additional, Yamada, S., additional, Yamamoto, K., additional, Junkkari, A., additional, Häyrinen, A., additional, Rauramaa, T., additional, Sintonen, H., additional, Nerg, O., additional, Koivisto, A. M., additional, Roine, R. P., additional, Viinamäki, H., additional, Soininen, H., additional, Luikku, A., additional, Jääskeläinen, J. E., additional, Leinonen, V., additional, Kehler, U., additional, Lilja-Lund, O., additional, Kockum, K., additional, Larsson, E. M., additional, Riklund, K., additional, Söderström, L., additional, Hellström, P., additional, Laurell, K., additional, Kojoukhova, M., additional, Sutela, A., additional, Vanninen, R., additional, Vanha, K. I., additional, Timonen, M., additional, Rummukainen, J., additional, Korhonen, V., additional, Helisalmi, S., additional, Solje, E., additional, Remes, A. M., additional, Huovinen, J., additional, Paananen, J., additional, Hiltunen, M., additional, Kurki, M., additional, Martin, B., additional, Loth, F., additional, Luciano, M., additional, Luikku, A. J., additional, Hall, A., additional, Herukka, S. K., additional, Mattila, J., additional, Lötjönen, J., additional, Alafuzoff, I., additional, Jurjević, I., additional, Miyajima, M., additional, Nakajima, M., additional, Murai, H., additional, Shin, T., additional, Kawaguchi, D., additional, Akiba, C., additional, Ogino, I., additional, Karagiozov, K., additional, Arai, H, additional, Reis, R. C., additional, Teixeira, M. J., additional, Valêncio, C. G., additional, da Vigua, D., additional, Almeida-Lopes, L., additional, Mancini, M. W., additional, Pinto, F. C. G., additional, Maykot, R. H., additional, Calia, G., additional, Tornai, J., additional, Silvestre, S. S. S., additional, Mendes, G., additional, Sousa, V., additional, Bezerra, B., additional, Dutra, P., additional, Modesto, P., additional, Oliveira, M. F., additional, Petitto, C. E., additional, Pulhorn, H., additional, Chandran, A., additional, McMahon, C., additional, Rao, A. S., additional, Jumaly, M., additional, Solomon, D., additional, Moghekar, A., additional, Relkin, N., additional, Hamilton, M., additional, Katzen, H., additional, Williams, M., additional, Bach, T., additional, Zuspan, S., additional, Holubkov, R., additional, Rigamonti, A., additional, Clemens, G., additional, Sharkey, P., additional, Sanyal, A., additional, Sankey, E., additional, Rigamonti, K., additional, Naqvi, S., additional, Hung, A., additional, Schmidt, E., additional, Ory-Magne, F., additional, Gantet, P., additional, Guenego, A., additional, Januel, A. C., additional, Tall, P., additional, Fabre, N., additional, Mahieu, L., additional, Cognard, C., additional, Gray, L., additional, Buttner-Ennever, J. A., additional, Takagi, K., additional, Onouchi, K, additional, Thompson, S. D., additional, Thorne, L. D., additional, Tully, H. M., additional, Wenger, T. L., additional, Kukull, W. A., additional, Doherty, D., additional, Dobyns, W. B., additional, Moran, D., additional, Vakili, S., additional, Patel, M. A., additional, Elder, B., additional, Goodwin, C. R., additional, Crawford, J. A., additional, Pletnikov, M. V., additional, Xu, J., additional, Blitz, A., additional, Herzka, D. A., additional, Guerrero-Cazares, H., additional, Quiñones-Hinojosa, A., additional, Mori, S., additional, Saavedra, P., additional, Treviño, H., additional, Maitani, K., additional, Ziai, W. C., additional, Eslami, V., additional, Nekoovaght-Tak, S., additional, Dlugash, R., additional, Yenokyan, G., additional, McBee, N., additional, and Hanley, D. F., additional

Published
2017
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35. Distinguishing 3 Classes Of Corpus Callosal Abnormalities In Consanguineous Families

Author

Hanna, R. M., Marsh, S. E., Swistun, D., Al-Gazali, L., Zaki, M. S., Abdel-Salam, G. M., Al-Tawari, A., Bastaki, L., Kayserili, H., Rajab, A., Boglarka, B., Dietrich, R. B., Dobyns, W. B., Truwit, C. L., Sattar, S., Chuang, N. A., Sherr, E. H., and Gleeson, J. G.

Subjects
fungi, parasitic diseases, cardiovascular system, cardiovascular diseases
Abstract

Objective: We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to create such a system have been hampered by highly variable morphology in patients with sporadic CCA. We reasoned that any useful strategy should classify affected family members within the same type, and that phenotypic variability should be minimized in patients with recessive disease.

Published
2011

37. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Author

Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Mckanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, and Paediatric Genetics

Subjects
Male, Pathology, DNA Mutational Analysis, Cell Cycle Proteins, medicine.disease_cause, Ciliopathies, Ocular Motility Disorders, Cohort Studies, Joubert syndrome–related disorders, CEP290, Genetics(clinical), Child, Genetics (clinical), Genetics, Mutation, Brain, Syndrome, Phenotype, Magnetic Resonance Imaging, Kidney Diseases, Molar, Neoplasm Proteins, Child, Preschool, Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Female, Humans, Abnormalities, Multiple, medicine.medical_specialty, Biology, Article, Joubert syndrome, Central nervous system disease, medicine, Antigens, Preschool, Genetic heterogeneity, medicine.disease, Cytoskeletal Proteins, Situs inversus, Neoplasm
Abstract

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Löken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients representing the spectrum of other JSRD subtypes, with mutations identified in only two patients. The data suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies.

Published
2007

38. Periventricular Nodular Heterotopia with Overlying Polymicrogyria Occurs in Several Distinct Patterns of Malformation: Clinical and Imaging Features

Author

Wieck, G., Leventer, R. J., Squier, W. M., Ramazzotti, A., Anna Jansen, Andermann, E., Dubeau, F., Guerrini, R., Dobyns, W. B., and Public Health Care

Subjects
hemic and lymphatic diseases, Developmental brain malformations
Abstract

OBJECTIVE: Polymicrogyria (PMG) and periventricular nodular heterotopia (PNH) are two developmental brain malformations that have been described independently in multiple syndromes. Clinically, they present with epilepsy and developmental handicaps in both children and adults. Here we describe their occurrence as the two major findings in a new cortical malformation syndrome with several distinct subtypes. METHODS: Twenty-seven patients were identified as having both PNH and PMG on brain imaging. Their brain imaging characteristics and clinical data were reviewed. Mutation analysis for FLN1 was carried out on six patients. RESULTS: The group was divided into two main subtypes based on brain imaging findings. The posterior PNH-PMG subtype had 16 patients and was characterized by PNH in the posterior and inferior lateral ventricles, and by PMG that was most severe in the temporo-parietooccipital regions. The perisylvian PNH-PMG subtype had eight patients and was characterized by PNH lining the lateral body and frontal horns of the lateral ventricles, and by PMG that was most severe in the perisylvian areas, occasionally with extension to the frontal and parietal lobes. Two variants were distinguished that were distinct from the two main subtypes. Key differences in the clinical characteristics of the two main subtypes were distinguished, including differences in developmental outcome and seizures. No FLN1 mutations were identified. CONCLUSIONS: The PNHPMG subtypes and variants we describe have distinct imaging and clinical phenotypes, suggesting multiple genetic etiologies involving defects in a gene or genes. Delineation of these syndromes will aid in providing more accurate diagnosis and prognostic information for patients with these malformations.

Published
2004

40. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

Author

Pisano, T., primary, Barkovich, A. J., additional, Leventer, R. J., additional, Squier, W., additional, Scheffer, I. E., additional, Parrini, E., additional, Blaser, S., additional, Marini, C., additional, Robertson, S., additional, Tortorella, G., additional, Rosenow, F., additional, Thomas, P., additional, McGillivray, G., additional, Andermann, E., additional, Andermann, F., additional, Berkovic, S. F., additional, Dobyns, W. B., additional, and Guerrini, R., additional

Published
2012
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44. Phenotypic spectrum associated with CASK loss-of-function mutations

Author

Moog, U., primary, Kutsche, K., additional, Kortum, F., additional, Chilian, B., additional, Bierhals, T., additional, Apeshiotis, N., additional, Balg, S., additional, Chassaing, N., additional, Coubes, C., additional, Das, S., additional, Engels, H., additional, Van Esch, H., additional, Grasshoff, U., additional, Heise, M., additional, Isidor, B., additional, Jarvis, J., additional, Koehler, U., additional, Martin, T., additional, Oehl-Jaschkowitz, B., additional, Ortibus, E., additional, Pilz, D. T., additional, Prabhakar, P., additional, Rappold, G., additional, Rau, I., additional, Rettenberger, G., additional, Schluter, G., additional, Scott, R. H., additional, Shoukier, M., additional, Wohlleber, E., additional, Zirn, B., additional, Dobyns, W. B., additional, and Uyanik, G., additional

Published
2011
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45. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Author

Kortum, F., primary, Das, S., additional, Flindt, M., additional, Morris-Rosendahl, D. J., additional, Stefanova, I., additional, Goldstein, A., additional, Horn, D., additional, Klopocki, E., additional, Kluger, G., additional, Martin, P., additional, Rauch, A., additional, Roumer, A., additional, Saitta, S., additional, Walsh, L. E., additional, Wieczorek, D., additional, Uyanik, G., additional, Kutsche, K., additional, and Dobyns, W. B., additional

Published
2011
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46. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Author

Hanna, R. M., primary, Marsh, S. E., additional, Swistun, D., additional, Al-Gazali, L., additional, Zaki, M. S., additional, Abdel-Salam, G. M., additional, Al-Tawari, A., additional, Bastaki, L., additional, Kayserili, H., additional, Rajab, A., additional, Boglarka, B., additional, Dietrich, R. B., additional, Dobyns, W. B., additional, Truwit, C. L., additional, Sattar, S., additional, Chuang, N. A., additional, Sherr, E. H., additional, and Gleeson, J. G., additional

Published
2011
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48. PRACTICE PARAMETER: EVALUATION OF THE CHILD WITH MICROCEPHALY (AN EVIDENCE-BASED REVIEW): REPORT OF THE QUALITY STANDARDS SUBCOMMITTEE OF THE AMERICAN ACADEMY OF NEUROLOGY AND THE PRACTICE COMMITTEE OF THE CHILD NEUROLOGY SOCIETY

Author

Graf, W. D., primary, Le Pichon, J. B., additional, Bittel, D. C., additional, Abdelmoity, A. T., additional, Yu, S., additional, Ashwal, S., additional, Michelson, D., additional, Plawner, L., additional, and Dobyns, W. B., additional

Published
2010
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