Wiedemann-steiner syndrome as a major cause ...
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Article dans une revue scientifique: Article original
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Title :
Wiedemann-steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 french cases
Author(s) :
Baer, S. [Auteur]
Afenjar, A. [Auteur]
Smol, Thomas [Auteur]
Piton, Amelie [Auteur]
Gerard, Benedicte [Auteur]
Alembik, Yves [Auteur]
Bienvenu, Thierry [Auteur]
Boursier, Guilaine [Auteur]
Boute, Odile [Auteur]
Colson, Cindy [Auteur]
Cordier, M.-P. [Auteur]
Cormier-Daire, Valerie [Auteur]
Delobel, Bruno [Auteur]
Doco-Fenzy, Martine [Auteur]
Duban-Bedu, Benedicte [Auteur]
Fradin, M. [Auteur]
Genevieve, David [Auteur]
Goldenberg, Alice [Auteur]
Grelet, M. [Auteur]
Haye, Damien [Auteur]
Heron, D. [Auteur]
Isidor, B. [Auteur]
Keren, Boris [Auteur]
Lacombe, Didier [Auteur]
Lebre, A.-S. [Auteur]
Lesca, Gaetan [Auteur]
Masurel, Alice [Auteur]
Mathieu-Dramard, Michele [Auteur]
Nava, C. [Auteur]
Pasquier, Laurent [Auteur]
Petit, A. [Auteur]
Philip, Nicole [Auteur]
Piard, J. [Auteur]
Rondeau, Sophie [Auteur]
Saugier-Veber, Pascale [Auteur]
Sukno, S. [Auteur]
Thevenon, Julien [Auteur]
Van-Gils, Julien [Auteur]
Vincent, Catherine [Auteur]
Willems, M. [Auteur]
Schaefer, Elise [Auteur]
Morin, Gilles [Auteur]
Afenjar, A. [Auteur]
Smol, Thomas [Auteur]
Piton, Amelie [Auteur]
Gerard, Benedicte [Auteur]
Alembik, Yves [Auteur]
Bienvenu, Thierry [Auteur]
Boursier, Guilaine [Auteur]
Boute, Odile [Auteur]
Colson, Cindy [Auteur]
Cordier, M.-P. [Auteur]
Cormier-Daire, Valerie [Auteur]
Delobel, Bruno [Auteur]
Doco-Fenzy, Martine [Auteur]
Duban-Bedu, Benedicte [Auteur]
Fradin, M. [Auteur]
Genevieve, David [Auteur]
Goldenberg, Alice [Auteur]
Grelet, M. [Auteur]
Haye, Damien [Auteur]
Heron, D. [Auteur]
Isidor, B. [Auteur]
Keren, Boris [Auteur]
Lacombe, Didier [Auteur]
Lebre, A.-S. [Auteur]
Lesca, Gaetan [Auteur]
Masurel, Alice [Auteur]
Mathieu-Dramard, Michele [Auteur]
Nava, C. [Auteur]
Pasquier, Laurent [Auteur]
Petit, A. [Auteur]
Philip, Nicole [Auteur]
Piard, J. [Auteur]
Rondeau, Sophie [Auteur]
Saugier-Veber, Pascale [Auteur]
Sukno, S. [Auteur]
Thevenon, Julien [Auteur]
Van-Gils, Julien [Auteur]
Vincent, Catherine [Auteur]
Willems, M. [Auteur]
Schaefer, Elise [Auteur]
Morin, Gilles [Auteur]
Journal title :
Clinical Genetics
Abbreviated title :
Clin. Genet.
Publication date :
2018-03-25
ISSN :
1399-0004
Keyword(s) :
intellectual disability
hairiness
histone methylation
hypertrichosis
KMT2A
Wiedemann-Steiner syndrome
hairiness
histone methylation
hypertrichosis
KMT2A
Wiedemann-Steiner syndrome
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the ...
Show more >Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.Show less >
Show more >Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Collections :
Submission date :
2021-09-02T07:01:49Z