ESPE Abstracts (2014) 82 P-D-2-2-471

When and Why Should We Investigate the SRCAP Gene in Cases of Short Stature?

Luiza Silveira Lucasa, Kym M Boycottb, Sarah M Nikkelb & Elizabeth Lemos Silveira Lucasc

aFaculdade de Medicina – Pontificia Universidade Católica do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil; bChildren’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; cAmbulatório de Genética Médica da Secretaria Municipal de Saúde de Porto Aelgre, Porto Alegre, Rio Grande do Sul, Brazil

Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named Floating–Harbor 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 31–34 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.

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