Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named FloatingHarbor syndrome (FHS). The clinical diagnosis of FHS is characterized by a triad of short stature with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with prominent nose and deep-set eyes.
Objective: To investigate the presence of SRCAP gene mutation in a girl with 6 years old and clinical diagnosis of FHS.
Methods: Blood sample to DNA extraction was sent to FORGE (Finding of Rare Disease Genes in Canada) and Sanger sequencing of exons 3134 of SRCAP was performed.
Results: A novel heterozygous SRCAP mutation was identified in codon 2407 (Gln2407*).
Conclusions: From the clinical point of view, molecular testing allowed us to establish a treatment plan based on scientific evidence. The main recommendations were: complete assessment of auditory and visual systems; renal and urinary tract ultrasound; neurological assessment if there is a suspicion of seizures; dental hygiene to prevent cavities and monitoring for malocclusion; and evaluation for GH deficiency at baseline, to be repeated if loss of growth velocity. Furthermore, the molecular study establishes that the mechanism of inheritance is autosomal dominant with a recurrence risk of 50% for offspring of affected person.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology