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6. Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

Author

Salzano, E, Raible, S, Kaur, M, Wilkens, A, Sperti, G, Tilton, R, Bettini, L, Rocca, A, Cocchi, G, Selicorni, A, Conlin, L, Mceldrew, D, Gupta, R, Thakur, S, Izumi, K, Krantz, I, Salzano E., Raible S. E., Kaur M., Wilkens A., Sperti G., Tilton R. K., Bettini L. R., Rocca A., Cocchi G., Selicorni A., Conlin L. K., McEldrew D., Gupta R., Thakur S., Izumi K., Krantz I. D., Salzano, E, Raible, S, Kaur, M, Wilkens, A, Sperti, G, Tilton, R, Bettini, L, Rocca, A, Cocchi, G, Selicorni, A, Conlin, L, Mceldrew, D, Gupta, R, Thakur, S, Izumi, K, Krantz, I, Salzano E., Raible S. E., Kaur M., Wilkens A., Sperti G., Tilton R. K., Bettini L. R., Rocca A., Cocchi G., Selicorni A., Conlin L. K., McEldrew D., Gupta R., Thakur S., Izumi K., and Krantz I. D.

Abstract

Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing. Ultrasound anomalies, especially congenital diaphragmatic hernia, congenital heart defects, and rhizomelic limb shortening, have been related to PKS, but they are singularly not specific and are not present in all affected fetuses. We have combined prenatal data from 86 previously published reports and from our cohort of 114 PKS probands (retrospectively reviewed). Summarizing this data we have defined a prenatal growth profile and identified markers of perinatal outcome which collectively provide guidelines for early recognition of the distinctive prenatal profile and consideration of a diagnosis of PKS as well as for management and genetic counseling.

Published
2018

7. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Author

Vissers, L.E.L.M., Kalvakuri, S., Boer, E. de, Geuer, S., Oud, M.M., Outersterp, I. van, Kwint, M.P., Witmond, M., Kersten, S., Polla, D.L., Weijers, D., Begtrup, A., McWalter, K., Ruiz, A., Gabau, E., Morton, J.E., Griffith, C., Weiss, K., Gamble, C., Bartley, J., Vernon, H.J., Brunet, K., Ruivenkamp, C., Kant, S.G., Kruszka, P., Larson, A., Afenjar, A., Billette de Villemeur, T., Nugent, K., Raymond, F.L., Venselaar, H., Demurger, F., Soler-Alfonso, C., Li, D., Bhoj, E., Hayes, I., Hamilton, N.P., Ahmad, A., Fisher, R., Born, M. van den, Willems, M., Sorlin, A., Delanne, J., Moutton, S., Christophe, P., Mau-Them, F.T., Vitobello, A., Goel, H., Massingham, L., Phornphutkul, C., Schwab, J., Keren, B., Charles, P., Vreeburg, M., Simone, L. De, Hoganson, G., Iascone, M., Milani, D., Evenepoel, L., Revencu, N., Ward, D.I., Burns, K., Krantz, I., Raible, S.E., Murrell, J.R., Wood, K., Cho, M.T., Bokhoven, H. van, Muenke, M., Kleefstra, T., Bodmer, R., Brouwer, A.P.M. de, Vissers, L.E.L.M., Kalvakuri, S., Boer, E. de, Geuer, S., Oud, M.M., Outersterp, I. van, Kwint, M.P., Witmond, M., Kersten, S., Polla, D.L., Weijers, D., Begtrup, A., McWalter, K., Ruiz, A., Gabau, E., Morton, J.E., Griffith, C., Weiss, K., Gamble, C., Bartley, J., Vernon, H.J., Brunet, K., Ruivenkamp, C., Kant, S.G., Kruszka, P., Larson, A., Afenjar, A., Billette de Villemeur, T., Nugent, K., Raymond, F.L., Venselaar, H., Demurger, F., Soler-Alfonso, C., Li, D., Bhoj, E., Hayes, I., Hamilton, N.P., Ahmad, A., Fisher, R., Born, M. van den, Willems, M., Sorlin, A., Delanne, J., Moutton, S., Christophe, P., Mau-Them, F.T., Vitobello, A., Goel, H., Massingham, L., Phornphutkul, C., Schwab, J., Keren, B., Charles, P., Vreeburg, M., Simone, L. De, Hoganson, G., Iascone, M., Milani, D., Evenepoel, L., Revencu, N., Ward, D.I., Burns, K., Krantz, I., Raible, S.E., Murrell, J.R., Wood, K., Cho, M.T., Bokhoven, H. van, Muenke, M., Kleefstra, T., Bodmer, R., and Brouwer, A.P.M. de

Abstract

Contains fulltext : 220423.pdf (Publisher’s version ) (Closed access), CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals with heterozygous de novo CNOT1 variants, including missense, splice site, and nonsense variants, who present with a clinical spectrum of intellectual disability, motor delay, speech delay, seizures, hypotonia, and behavioral problems. To link CNOT1 dysfunction to the neurodevelopmental phenotype observed, we generated variant-specific Drosophila models, which showed learning and memory defects upon CNOT1 knockdown. Introduction of human wild-type CNOT1 was able to rescue this phenotype, whereas mutants could not or only partially, supporting our hypothesis that CNOT1 impairment results in neurodevelopmental delay. Furthermore, the genetic interaction with autism-spectrum genes, such as ASH1L, DYRK1A, MED13, and SHANK3, was impaired in our Drosophila models. Molecular characterization of CNOT1 variants revealed normal CNOT1 expression levels, with both mutant and wild-type alleles expressed at similar levels. Analysis of protein-protein interactions with other members indicated that the CCR4-NOT complex remained intact. An integrated omics approach of patient-derived genomics and transcriptomics data suggested only minimal effects on endonucleolytic nonsense-mediated mRNA decay components, suggesting that de novo CNOT1 variants are likely haploinsufficient hypomorph or neomorph, rather than dominant negative. In summary, we provide strong evidence that de novo CNOT1 variants cause neurodevelopmental delay with a wide range of additional co-morbidities. Whereas the underlying pathophysiological mechanism warrants further analysis, our data demonstrate an essential and central role of the CCR4-NOT complex in human brain development.

Published
2020

8. Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

Author

Salzano, E., Raible, S. E., Kaur, M., Wilkens, A., SPERTI, GIACOMO, Tilton, R. K., Bettini, L. R., Rocca, A., Cocchi, G., Selicorni, A., Conlin, L. K., McEldrew, D., Gupta, R., Thakur, S., Izumi, K., Krantz, I. D., Salzano, E, Raible, S, Kaur, M, Wilkens, A, Sperti, G, Tilton, R, Bettini, L, Rocca, A, Cocchi, G, Selicorni, A, Conlin, L, Mceldrew, D, Gupta, R, Thakur, S, Izumi, K, Krantz, I, Salzano, E., Raible, S.E., Kaur, M., Wilkens, A., Sperti, G., Tilton, R.K., Bettini, L.R., Rocca, A., Cocchi, G., Selicorni, A., Conlin, L.K., McEldrew, D., Gupta, R., Thakur, S., Izumi, K., and Krantz, I.D.

Subjects
prenatal diagnosi, Chromosomes, Human, Pair 12, Chromosome Disorders, Gestational Age, Ultrasonography, Prenatal, mosaicism, polyhydramnio, Chromosome Disorder, Phenotype, Genetic, Pregnancy, Retrospective Studie, Prenatal Diagnosis, polycyclic compounds, isochromosome 12p, Humans, Abnormalities, Multiple, Female, macrosomia, Pallister-Killian Syndrome, Genetics (clinical), Retrospective Studies, Human
Abstract

Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing. Ultrasound anomalies, especially congenital diaphragmatic hernia, congenital heart defects, and rhizomelic limb shortening, have been related to PKS, but they are singularly not specific and are not present in all affected fetuses. We have combined prenatal data from 86 previously published reports and from our cohort of 114 PKS probands (retrospectively reviewed). Summarizing this data we have defined a prenatal growth profile and identified markers of perinatal outcome which collectively provide guidelines for early recognition of the distinctive prenatal profile and consideration of a diagnosis of PKS as well as for management and genetic counseling.

Published
2018

12. Association between low concentrations of antibodies to protein (alpha) and Rib and invasive neonatal group B streptococcal infection

Author

Larsson, C., Lindroth, M., Nordin, P., Stalhammar-Carlemalm, M., Lindahl, G., and Krantz, I.

Subjects
Streptococcus agalactiae -- Research, Antibodies -- Dosage and administration, Viral antibodies -- Dosage and administration, Streptococcal infections -- Care and treatment, Streptococcal infections -- Prevention, Family and marriage, Health, Women's issues/gender studies
Published
2006

14. The Butajira project in Ethiopia: a nested case-referent study of under-five mortality and its public health determinants

Author

Shamebo, D., Sandstrom, A., Muhe, L., Freij, L., Krantz, I., Lonnberg, G., and Wall, S.

Subjects
Children -- Patient outcomes, Infants -- Patient outcomes, Ethiopia -- Health aspects
Abstract

During one year of follow-up, 306 deaths of children under the age of 5 years were included in a concurrent case - referent study that was based on a population estimated at 28 780 in 1987. A total of 612 live referents, matched for age, sex and study area, were also selected from the study population through density sampling. Data were collected by lay reporters by verbal autopsy. For the study period the estimated cumulative under-five mortality rate was 293 and the infant (0-11 months old) mortality rate was 136 per 1000. Major probable causes of death were diarrhoeal disease or acute respiratory infections (ARI). The relative importance of parental and environmental characteristics was assessed using conditional multiple logistic regression analysis. Under-five mortality was associated with paternal illiteracy, maternal ethnicity, and not being in the committee of people's organizations. Parental factors affected the infants relatively more than they did the children, especially with regard to ARI mortality. This was also noted with "absence of window", a proxy measure for evaluating the type of housing. In terms of etiological fractions a greater number of under-five deaths could be ascribed to parental than environmental conditions, with relatively more infants being affected than children., Introduction Diarrhoeal disease and acute respiratory tract infections (ARI) are the leading causes of morbidity and mortality in developing countries among under-5-year-olds[1-3]. Factors identified as determinants of these disease entities [...]

Published
1993

16. Respiratory sequelae and lung function after whooping cough in infancy

Author

Krantz, I., Bjure, J., Claesson, I., Eriksson, B., Sixt, R., and Trollfors, B.

Subjects
Respiratory tract diseases -- Health aspects, Pertussis vaccines -- Sweden, Whooping-cough -- Complications, Infection in children -- Complications, Whooping-cough -- Demographic aspects
Published
1990

18. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

Author

Kline, A, Calof, A, Lander, A, Gerton, J, Krantz, I, Dorsett, D, Deardorff, M, Blagowidow, N, Yokomori, K, Shirahige, K, Santos, R, Woodman, J, Megee, P, O'Connor, J, Egense, A, Noon, S, Belote, M, Goodban, M, Hansen, B, Timmons, J, Musio, A, Ishman, S, Bryan, Y, Wu, Y, Bettini, L, Mehta, D, Zakari, M, Mills, J, Srivastava, S, Haaland, R, Kline A. D., Calof A. L., Lander A. D., Gerton J. L., Krantz I. D., Dorsett D., Deardorff M. A., Blagowidow N., Yokomori K., Shirahige K., Santos R., Woodman J., Megee P. C., O'Connor J. T., Egense A., Noon S., Belote M., Goodban M. T., Hansen B. D., Timmons J. G., Musio A., Ishman S. L., Bryan Y., Wu Y., Bettini L. R., Mehta D., Zakari M., Mills J. A., Srivastava S., Haaland R. E., Kline, A, Calof, A, Lander, A, Gerton, J, Krantz, I, Dorsett, D, Deardorff, M, Blagowidow, N, Yokomori, K, Shirahige, K, Santos, R, Woodman, J, Megee, P, O'Connor, J, Egense, A, Noon, S, Belote, M, Goodban, M, Hansen, B, Timmons, J, Musio, A, Ishman, S, Bryan, Y, Wu, Y, Bettini, L, Mehta, D, Zakari, M, Mills, J, Srivastava, S, Haaland, R, Kline A. D., Calof A. L., Lander A. D., Gerton J. L., Krantz I. D., Dorsett D., Deardorff M. A., Blagowidow N., Yokomori K., Shirahige K., Santos R., Woodman J., Megee P. C., O'Connor J. T., Egense A., Noon S., Belote M., Goodban M. T., Hansen B. D., Timmons J. G., Musio A., Ishman S. L., Bryan Y., Wu Y., Bettini L. R., Mehta D., Zakari M., Mills J. A., Srivastava S., and Haaland R. E.

Abstract

Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Published
2015

21. Cornelia de Lange syndrome: evidence for a sensory neuropathy

Author

Kline, A.D., Krantz, I., Goldstein, A., Koo, B., and Jackson, L.G.

Subjects
Genetic disorders -- Research, De Lange syndrome -- Physiological aspects, Nervous system diseases -- Genetic aspects, Chromosome abnormalities -- Physiological aspects, Biological sciences
Published
2001

22. Screening of Tanzanian women of childbearing age for urinary schistosomiasis: validity of urine reagent strip readings and self-reported symptoms

Author

Poggensee, G., Krantz, I., Kiwelu, I., and Feldmeier, H

Subjects
Schistosomiasis -- Diagnosis, Women -- Medical examination
Abstract

The screening of women of childbearing age for haematuria, leukocyturia and proteinuria to detect urinary schistosomiasis can be confounded by several factors such as menstruation, pregnancy and genitourinary infections. We therefore undertook a study in an area endemic for Schistosoma haematobium in the United Republic of Tanzania to carry out the following: assess the sensitivity, specificity and predictive values -- in women of childbearing age -- of indirect indicators of urinary schistosomiasis, as measured by urine reagent strip readings; assess the predictive values of self-reported symptoms; and finally to estimate the morbidity attributable to S. haematobium. A total of 303 women (128 and 175, respectively, living in high- and low-risk sites) participated in the study. Haematuria was more frequent among women excreting S. haematobium eggs than among those who did not (65% versus 32%). The predictive potential of all indirect disease markers was poor in the highly endemic site, while in the sites with low endemicity the negative predictive values were high. Among infected women, 54% of haematuria could be attributed to S. haematobium, but for patients with more than 10 eggs/10 ml the attributable fraction rose to 70%. Symptoms of "bloody urine" and "pain while urinating" were recalled significantly more often by women living in the highly endemic site. On a population level, one-third of the self-reported cases with bloody urine could be attributed to urinary schistosomiasis. Screening of women of childbearing age for urinary schistosomiasis using urine reagent strips can be biased in two directions. The prevalence of S. haematobium will be overestimated if other causes of haematuria, such as reproductive tract infections, are highly endemic. On the other hand, women with light or very light infections will be missed and will not be treated. This is of concern because genital schistosomiasis, a possible risk factor for the transmission of HIV, occurs among women even with light infections. Keywords: Schistosoma haematobium, diagnosis; Schistosoma haematobium, urine; menstruation, urine; reagent strips; interviews; sensitivity and specificity; predictive value of tests., Voir page 547 le resume en francais. En la pagina 547 figura un resumen en espanol. Introduction Haematuria (HU), leukocyturia (LU) and proteinuria (PU) are widely accepted as indirect markers [...]

Published
2000

26. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome

Author

Stewart, D. R., Huang, A., Faravelli, F., Anderlid, B. -M, Medne, L., Ciprero, K., Kaur, M., ELENA ROSSI, Tenconi, R., Nordenskjöld, M., Gripp, K. W., Nicholson, L., Meschino, W. S., Capua, E., Quarrell, O. W. J., Flint, J., Irons, M., Giampietro, P. F., Schowalter, D. B., Zaleski, C. A., Malacarne, M., Zackai, E. H., Spinner, N. B., and Krantz, I. D.

Subjects
Male, Chromosome Mapping, Syndrome, Telomere, Polymorphism, Single Nucleotide, Cohort Studies, Child, Preschool, Intellectual Disability, Cytogenetic Analysis, Microcephaly, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, Child, Chromosomes, Human, Pair 9, Microsatellite Repeats
Abstract

Fluorescent in situ hybridization (FISH) screening of subtelomeric rearrangements has resulted in the identification of previously unrecognized chromosomal causes of mental retardation with and without dysmorphic features. This article reports the phenotypic and molecular breakpoint characterization in a cohort of 12 patients with subtelomeric deletions of chromosome 9q34. The phenotypic findings are consistent amongst these individuals and consist of mental retardation, distinct facial features and congenital heart defects (primarily conotruncal defects). Detailed breakpoint mapping by FISH, microsatellite and single nucleotide polymorphism (SNP) genotyping analysis has narrowed the commonly deleted region to an approximately 1.2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval.

Published
2004

27. Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

Author

Bason, L, Dudley, T, Lewis, K, Shah, U, Potsic, W, Ferraris, A, Fortina, Paolo, Rappaport, E, and Krantz, I. D.

Subjects
Connexin 26, Male, Child, Preschool, Hearing Loss, Sensorineural, DNA Mutational Analysis, Homozygote, Mutation, Missense, Humans, Point Mutation, Female, Child, Connexins
Abstract

Mutations in the Connexin 26 (Cx26) gene have been found to account for approximately 20% of all childhood deafness. This number approaches 50% in documented recessive cases of hearing loss. Two mutations, 35delG and 167delT, account for the majority of reported mutations in this gene, but to date, more than 60 mutations have been described. No other single gene has yet been identified that contributes this significantly to the aetiology of hearing loss. Several mutations in this gene have been found to predominate in specific ethnic populations (167delT in Ashkenazi Jews and 235delC in Japanese individuals). While the majority of mutations found in Cx26 result in frame shifts and premature terminations, a number of missense mutations have also been identified. The V37I missense mutation has been reported as both a polymorphism and as a potentially disease-causing missense mutation. The present authors have identified three unrelated individuals with sensorineural hearing loss who are homozygous for this mutation. One individual is of Philippine ancestry, another is from a Chinese and Cambodian background, while the third is of Chinese ancestry, raising the possibility that this mutation may be more frequent among populations in eastern Asia.

Published
2002

29. [Children in poor countries also have right to good health care. A new care program will reduce child mortality]

Author

Wekell P, Håkanson A, Krantz I, Birger Forsberg, Troedsson H, and Gebre-Medhin M

Subjects
United Nations, Child Health Services, Child Welfare, Infant, Bacterial Infections, Regional Medical Programs, World Health Organization, Nutrition Disorders, Virus Diseases, Child, Preschool, Diarrhea, Infantile, Infant Mortality, Humans, Child, Developing Countries
Abstract

According to the WHO (World Health Organization), 12 million children die annually before reaching the age of five. Seventy per cent of the deaths are related to one or more of five common diseases: acute respiratory tract infection, diarrhoea, measles, malaria and malnutrition. Consequently, drawing on international experience and expertise, the WHO and UNICEF (United Nations International Children's Emergency Fund) have compiled and developed guidelines for the primary care of Third World children. This programme, entitled Integrated management of childhood illness (IMCI), is expected to improve the care of children in areas and situations resources are limited.

Published
1997

39. Quality of STD care in an urban Zambian setting: the providers' perspective

Author

Faxelid, E, Ahlberg, Beth Maina, Maimbolwa, M, Krantz, I, Faxelid, E, Ahlberg, Beth Maina, Maimbolwa, M, and Krantz, I

Abstract

The aim of this paper is to analyse obstacles to optimal STD care in an urban setting in Zambia. Eighty-two health professionals answered a questionnaire with closed and open-ended questions. More than 50% were not satisfied with their working conditions, Addresses: Faxelid E, Karolinska Inst, Dept Publ Hlth Sci, Div Int Hlth Care Res, Stockholm, Sweden. Karolinska Inst, Dept Publ Hlth Sci, Div Int Hlth Care Res, Stockholm, Sweden. Univ Stockholm, Coll Hlth Sci, Stockholm, Sweden. Univ Uppsala, Dept Socio

Published
1997

41. Circumcision and HIV

Author

Krantz, I, Ahlberg, Beth Maina, Krantz, I, and Ahlberg, Beth Maina

Published
1995

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