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Your search keyword '"Van Maldergem, L"' showing total 27 results
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27 results on '"Van Maldergem, L"'

2. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Author

Meester, JAN, Sukalo, M, Schroeder, KC, Schanze, D, Baynam, G, Borck, G, Bramswig, NC, Duman, D, Gilbert-Dussardier, B, Holder-Espinasse, M, Itin, P, Johnson, DS, Joss, S, Koillinen, H, McKenzie, F, Morton, J, Nelle, H, Reardon, W, Roll, C, Salih, MA, Savarirayan, R, Scurr, I, Splitt, M, Thompson, E, Titheradge, H, Travers, CP, Van Maldergem, L, Whiteford, M, Wieczorek, D, Vandeweyer, G, Trembath, R, Van Laer, L, Loeys, BL, Zenker, M, Southgate, L, Wuyts, W, Meester, JAN, Sukalo, M, Schroeder, KC, Schanze, D, Baynam, G, Borck, G, Bramswig, NC, Duman, D, Gilbert-Dussardier, B, Holder-Espinasse, M, Itin, P, Johnson, DS, Joss, S, Koillinen, H, McKenzie, F, Morton, J, Nelle, H, Reardon, W, Roll, C, Salih, MA, Savarirayan, R, Scurr, I, Splitt, M, Thompson, E, Titheradge, H, Travers, CP, Van Maldergem, L, Whiteford, M, Wieczorek, D, Vandeweyer, G, Trembath, R, Van Laer, L, Loeys, BL, Zenker, M, Southgate, L, and Wuyts, W

Abstract

Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data on the frequency and distribution of mutations in large cohorts are currently limited. The purpose of this study was therefore to comprehensively examine the genetic architecture of AOS in an extensive cohort. Molecular diagnostic screening of 194 AOS/ACC/TTLD probands/families was conducted using next-generation and/or capillary sequencing analyses. In total, we identified 63 (likely) pathogenic mutations, comprising 56 distinct and 22 novel mutations, providing a molecular diagnosis in 30% of patients. Taken together with previous reports, these findings bring the total number of reported disease variants to 63, with a diagnostic yield of 36% in familial cases. NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 (3%), EOGT (3%), and RBPJ (2%) representing additional causality in this cohort. We confirm the relevance of genetic screening across the AOS/ACC/TTLD spectrum, highlighting preliminary but important genotype-phenotype correlations. This cohort offers potential for further gene identification to address missing heritability.

Published
2018

3. IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

Author

Brischoux-Boucher, E., primary, Trimouille, A., additional, Baujat, G., additional, Goldenberg, A., additional, Schaefer, E., additional, Guichard, B., additional, Hannequin, P., additional, Paternoster, G., additional, Baer, S., additional, Cabrol, C., additional, Weber, E., additional, Godfrin, G., additional, Lenoir, M., additional, Lacombe, D., additional, Collet, C., additional, and Van Maldergem, L., additional

Published
2018
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4. Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Author

Braunisch, M.C., primary, Gallwitz, H., additional, Abicht, A., additional, Diebold, I., additional, Holinski-Feder, E., additional, Van Maldergem, L., additional, Lammens, M., additional, Kovács-Nagy, R., additional, Alhaddad, B., additional, Strom, T.M., additional, Meitinger, T., additional, Senderek, J., additional, Rudnik-Schöneborn, S., additional, and Haack, T.B., additional

Published
2017
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5. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

Author

Haghighi, A., primary, Kavehmanesh, Z., additional, Haghighi, A., additional, Salehzadeh, F., additional, Santos-Simarro, F., additional, Van Maldergem, L., additional, Cimbalistiene, L., additional, Collins, F., additional, Chopra, M., additional, Al-Sinani, S., additional, Dastmalchian, S., additional, de Silva, D.C., additional, Bakhti, H., additional, Garg, A., additional, and Hilbert, P., additional

Published
2015
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6. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Author

Tatton-Brown, K., Murray, A., Hanks, S., Douglas, J., Armstrong, R., Banka, S., Bird, L.M., Clericuzio, C.L., Cormier-Daire, V., Cushing, T., Flinter, F., Jacquemont, M-L, Joss, S., Kinning, E., Lynch, S.A., Magee, A., McConnell, V., Medeira, A., Ozono, K., Patton, M., Rankin, J., Shears, D., Simon, M., Splitt, M., Strenger, V., Stuurman, K., Taylor, C., Titheradge, H., Van Maldergem, L., Temple, I.K., Cole, T., Seal, S., Rahman, N., Baynam, G., Tatton-Brown, K., Murray, A., Hanks, S., Douglas, J., Armstrong, R., Banka, S., Bird, L.M., Clericuzio, C.L., Cormier-Daire, V., Cushing, T., Flinter, F., Jacquemont, M-L, Joss, S., Kinning, E., Lynch, S.A., Magee, A., McConnell, V., Medeira, A., Ozono, K., Patton, M., Rankin, J., Shears, D., Simon, M., Splitt, M., Strenger, V., Stuurman, K., Taylor, C., Titheradge, H., Van Maldergem, L., Temple, I.K., Cole, T., Seal, S., Rahman, N., and Baynam, G.

Abstract

Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve.

Published
2013

7. An update on serine deficiency disorders

Author

van der Crabben, S. N., primary, Verhoeven-Duif, N. M., additional, Brilstra, E. H., additional, Van Maldergem, L., additional, Coskun, T., additional, Rubio-Gozalbo, E., additional, Berger, R., additional, and de Koning, T. J., additional

Published
2013
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8. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

Author

Saal, S, primary, Faivre, L, additional, Aral, Bernard, additional, Gigot, N, additional, Toutain, A, additional, Van Maldergem, L, additional, Destree, A, additional, Maystadt, I, additional, Cosyns, J-P, additional, Jouk, P-S, additional, Loeys, B, additional, Chauveau, D, additional, Bieth, E, additional, Layet, V, additional, Mathieu, M, additional, Lespinasse, J, additional, Teebi, A, additional, Franco, B, additional, Gautier, E, additional, Binquet, C, additional, Masurel-Paulet, A, additional, Mousson, C, additional, Gouyon, J-B, additional, Huet, F, additional, and Thauvin-Robinet, C, additional

Published
2010
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10. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

Author

Menko, FH, primary, Kneepkens, CMF, additional, De Leeuw, N, additional, Peeters, EAJ, additional, Van Maldergem, L, additional, Kamsteeg, EJ, additional, Davidson, R, additional, Rozendaal, L, additional, Lasham, CA, additional, Peeters-Scholte, CMP, additional, Jansweijer, MC, additional, Hilhorst-Hofstee, Y, additional, Gille, JJP, additional, Heins, YM, additional, Nieuwint, AWM, additional, and Sistermans, EA, additional

Published
2008
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20. Severe congenital cutis laxa with pulmonary emphysema: A family with three affected sibs

Author

Van Maldergem, L., primary, Vamos, E., additional, Liebaers, I., additional, Petit, P., additional, Vandevelde, G., additional, Simonis-Blumenfrucht, A., additional, Bouffioux, R., additional, Kulakowski, S., additional, Hanquinet, S., additional, Van Durme, P., additional, Laporte, M., additional, Ledoux-Corbusier, M., additional, Reynolds, James F., additional, and Neri, Giovanni, additional

Published
1988
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22. Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity

Author

Christelle Cabrol, Alessandro Consales, Vincenzo Nigro, Lyse Ruaud, Marcello Scala, Gianluca Piatelli, Francesco Musacchia, Valeria Capra, Margaux Serey-Gaut, Nathalie Escande-Beillard, Lionel Van Maldergem, Jean Langlais, Bruno Reversade, Annalaura Torella, Andrea Accogli, Serey-Gaut, M., Scala, M., Reversade, B., Ruaud, L., Cabrol, C., Musacchia, F., Torella, A., Accogli, A., Escande-Beillard, N., Langlais, J., Piatelli, G., Consales, A., Nigro, V., Capra, V., and Van Maldergem, L.

Subjects
0301 basic medicine, cervical spine malformation, supernumerary ribs, 030105 genetics & heredity, 03 medical and health sciences, Exon, Skeletal disorder, spondylocostal dysostosis type 6, Vertebral segmentation defect, Genetics, medicine, Spectrum disorder, Genetics (clinical), Exome sequencing, oculo-auriculo-vertebral spectrum, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, RIPPLY2, Anatomy, medicine.disease, Spinal cord, Spondylocostal dysostosis, 030104 developmental biology, medicine.anatomical_structure, business
Abstract

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel–Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To date, only four cases have been reported. The current report aims at further delineating the posterior malformation in three new patients. Three patients from two unrelated families underwent clinical and radiological examination through X-ray, 3D computed tomography and brain magnetic resonance imaging. After informed consent was obtained, family-based whole exome sequencing (WES) was performed. Complex vertebral segmentation defects in the cervico-thoracic spine were observed in all patients. WES led to the identification of the homozygous splicing variant c.240-4T>G in all subjects. This variant is predicted to result in aberrant splicing of Exon 4. The current report highlights a subtype of cervical spine malformation with major atlo-axoidal malformation compromising spinal cord integrity. This distinctive mutation-specific pattern of malformation differs from Klippel–Feil syndrome and broadens the current classification, defining a sub-type of RIPPLY2-related skeletal disorder. Of note, the phenotype of one patient overlaps with oculo-auriculo-vertebral spectrum disorder.

Published
2020

23. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

Author

Van Maldergem L, Moser AB, Vincent MF, Roland D, Reding R, Otte JB, Wanders RJ, and Sokal E

Subjects
ATPases Associated with Diverse Cellular Activities, Bile Acids and Salts metabolism, Docosahexaenoic Acids metabolism, Family Health, Fatty Acids blood, Female, Humans, Infant, Living Donors, Membrane Proteins genetics, Muscle Hypotonia pathology, Phytanic Acid blood, Phytanic Acid metabolism, Time Factors, Liver Transplantation methods, Peroxisomal Disorders pathology, Peroxisomal Disorders therapy, Peroxisomes metabolism
Abstract

Peroxisomal biogenesis defects include a number of severe neurodevelopmental disorders, among which infantile Refsum disease (IRD) occupies the mildest end of the spectrum. Although high docosahexaenoic acid (DHA) and low phytanic acid diets can correct some of the biochemical defects, they have not consistently altered the progressive course of the disease. We carried out orthotopic liver transplantation (OLT) in a mildly symptomatic 6-month-old infant who was a sibling of a severely neurologically impaired older sister. After transplantation the clinical course of this young child appeared much improved by comparison to her older sister. She walked alone at 4 years, had acceptable social interaction and had a noticeable recovery of audition. After transplantation her biochemical parameters were significantly improved: phytanic acid and very long-chain fatty acid (VLCFA) serum concentrations decreased. Abnormal bile acids disappeared from plasma. Although the OLT did not result in a cure of the disorder, the clinical and biochemical results suggest that OLT should be considered in mildly symptomatic patients.

Published
2005
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24. Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease.

Author

Dehout F, Roland D, Treille de Granseigne S, Guillaume B, and Van Maldergem L

Subjects
Abdominal Pain drug therapy, Abdominal Pain etiology, Adolescent, Adult, Diarrhea drug therapy, Diarrhea etiology, Fabry Disease complications, Female, Humans, Longitudinal Studies, Male, Middle Aged, Patient Satisfaction, Recombinant Proteins, Surveys and Questionnaires, Fabry Disease drug therapy, Gastrointestinal Diseases drug therapy, Gastrointestinal Diseases etiology, Isoenzymes therapeutic use, alpha-Galactosidase therapeutic use
Abstract

Gastrointestinal symptoms, including diarrhoea and abdominal pain, are one of the earliest and most frequently reported signs of Fabry disease, a rare X-linked lipid storage disorder. As the disease progresses, renal, cardiac and cerebrovascular complications develop, resulting in more serious symptoms and early mortality. The present study evaluated the effects of enzyme replacement therapy (ERT) with agalsidase alfa on the gastrointestinal symptoms of Fabry disease. Following 6 months of treatment, both the severity ( p < 0.02) and frequency ( p < 0.02) of abdominal pain decreased. For those patients who had received agalsidase alfa for more than 6 months, the observed improvement was generally maintained. This is the first study indicating a significant beneficial effect of ERT on gastrointestinal symptoms in a group of patients treated for Fabry disease.

Published
2004
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25. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.

Author

De Koning TJ, Duran M, Van Maldergem L, Pineda M, Dorland L, Gooskens R, Jaeken J, and Poll-The BT

Subjects
Child, Child, Preschool, Female, Glycine blood, Glycine cerebrospinal fluid, Humans, Infant, Male, Phosphoglycerate Dehydrogenase, Psychomotor Disorders genetics, Seizures drug therapy, Serine blood, Serine cerebrospinal fluid, Treatment Outcome, Carbohydrate Dehydrogenases deficiency, Microcephaly genetics, Seizures genetics, Serine therapeutic use
Abstract

Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3-7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L-serine. A favourable outcome of 3-PGDH deficiency depends on early diagnosis and treatment.

Published
2002
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26. Prenatal ultrasound detection of congenital cataract in trisomy 21.

Author

Romain M, Awoust J, Dugauquier C, and Van Maldergem L

Subjects
Abortion, Induced, Cataract embryology, Down Syndrome embryology, Female, Fetal Diseases embryology, Humans, Maternal Age, Middle Aged, Pregnancy, Pregnancy Trimester, Second, Pregnancy, High-Risk, Ultrasonography, Doppler, Color, Cataract congenital, Cataract diagnostic imaging, Down Syndrome diagnostic imaging, Fetal Diseases diagnostic imaging, Ultrasonography, Prenatal
Abstract

A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosis of this complication of Down syndrome., (Copyright 1999 John Wiley & Sons, Ltd.)

Published
1999
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27. Morphological features of a case of retinoic acid embryopathy.

Author

Van Maldergem L, Jauniaux E, and Gillerot Y

Subjects
Abnormalities, Multiple diagnostic imaging, Abortion, Therapeutic, Adult, Facial Bones abnormalities, Female, Heart Defects, Congenital chemically induced, Heart Defects, Congenital diagnostic imaging, Humans, Hydrocephalus chemically induced, Hydrocephalus diagnostic imaging, Maternal-Fetal Exchange, Pregnancy, Pregnancy Trimester, Second, Abnormalities, Multiple chemically induced, Tretinoin adverse effects, Ultrasonography, Prenatal
Abstract

A case of retinoic acid embryopathy which was retrospectively diagnosed after delivery is presented. The affected fetus was exposed to the drug during the first month of pregnancy and second-trimester sonographic examination showed hydrocephalus and cardiac malformation. The diagnosis was made on the basis of autopsy findings and genetic enquiry.

Published
1992
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