CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

Détails

ID Serval
serval:BIB_CD3B3F4A1D42
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
Périodique
Clinical Genetics
Auteur(s)
Wincent J., Holmberg E., Strömland K., Soller M., Mirzaei L., Djureinovic T., Robinson K., Anderlid B., Schoumans J.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
2008
Volume
74
Numéro
1
Pages
31-38
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. PDF type: Original Article
Résumé
CHARGE syndrome is a disorder characterized by Coloboma, Heart defect, Atresia choanae, Retarded growth and/or development, Genital hypoplasia and Ear anomalies. Heterozygous mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene have been identified in about 60% of individuals diagnosed with CHARGE syndrome. We performed a CHD7 mutation screening by direct exon sequencing in 28 index patients (26 sporadic cases, 1 familial case consisting of a brother and sister and 1 case consisting of monozygotic twins) diagnosed with CHARGE syndrome in order to determine the mutations in a cohort of Swedish CHARGE syndrome patients. The patients without a detectable CHD7 mutation, or with a missense mutation, were further investigated by multiplex ligation-dependent probe amplification (MLPA) in order to search for intragenic deletions or duplications. Thirteen novel mutations and five previously reported mutations were detected. The mutations were scattered throughout the gene and included nonsense, frameshift and missense mutations as well as intragenic deletions. In conclusion, CHD7 mutations were detected in a large proportion (64%) of cases diagnosed with CHARGE syndrome. Screening for intragenic deletions with MLPA is recommended in cases where mutations are not found by sequencing. In addition, a CDH7 mutation was found in an individual without temporal bone malformation.
Mots-clé
Abnormalities, Multiple/genetics, Adolescent, Adult, Child, Child, Preschool, Coloboma/genetics, DNA Helicases/genetics, DNA-Binding Proteins/genetics, Ear/abnormalities, Female, Growth Disorders/genetics, Heart Defects, Congenital/genetics, Humans, Male, Mutation, Pedigree, Syndrome
Pubmed
Web of science
Création de la notice
17/09/2011 9:59
Dernière modification de la notice
20/08/2019 16:47
Données d'usage