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Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome
Author(s) -
Le Meur Nathalie,
Goldenberg Alice,
MichelAdde Christine,
DrouinGarraud Valérie,
Blaysat Gérard,
Marret Stéphane,
Amara Saad Abu,
Moirot Hélène,
JolyHélas Géraldine,
Mace Bertrand,
Kleinfinger Pascale,
SaugierVeber Pascale,
Frébourg Thierry,
Rossi Annick
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30660
Subject(s) - locus (genetics) , aplasia , heart defect , genetics , biology , long arm , genetic heterogeneity , gene , chromosome , heart disease , anatomy , medicine , phenotype , pathology
Holt–Oram syndrome, the major “heart–hand” syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be TBX5 , located on 12q24.1, which encodes a transcription factor. Genetic heterogeneity has been suggested by several reports. We identified a 14(q23.3 ∼ 24.2q31.1) deletion in a boy presenting severe bilateral asymmetrical radial aplasia, congenital heart defects, and developmental delay. This deletion, whose size could be estimated to be 9.6–13.7 Mb, was shown to be inherited via his mother's interchromosomal insertion. This is the second report of a chromosome 14 interstitial deletion associated with clinical features of Holt–Oram syndrome. These observations suggest the existence of a new “heart–hand” locus on chromosome 14q. © 2005 Wiley‐Liss, Inc.