Session: S37-New Genetics of Short Stature: Beyond the GH-IGF Axis
Supported by Lilly USA, LLC and Novo Nordisk Inc.
Room 304 (Moscone Center)
Floating-Harbor syndrome is a rare condition combining short stature, delayed bone age, expressive language deficits, and a characteristic distinctive appearance. We recently used whole-exome sequencing to identify de novo heterozygous truncating mutations in SRCAP. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of the short stature condition Rubinstein-Taybi syndrome). Mutations in SRCAP are all are tightly clustered within a small (111-codon) region of the final exon and are predicted to abolish three C-terminal AT-hook DNA-binding motifs, while leaving the CBP-binding and ATPase domains intact. Comprehensive review of the clinical features of >50 individuals with mutations in SRCAP have facilitated development of core clinical diagnostic criteria and suggestions for management of long-term complications.
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