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Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
Author(s) -
Goff Carine Le,
Mahaut Clémentine,
Bottani Armand,
Doray Berenice,
Goldenberg Alice,
Moncla Anne,
Odent Sylvie,
Nitschke Patrick,
Munnich Arnold,
Faivre Laurence,
CormierDaire Valérie
Publication year - 2013
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22216
Subject(s) - biology , exon , genetics , exome , exome sequencing , mutation , gene , human genetics
Floating‐Harbor syndrome ( FHS ) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS . Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical homogeneity in this series of FHS patients.