Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

ABSTRACT:

Background

Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1).

Methods

Two patients (P1 age 10, and P2 age 7) from unrelated families presented to their endocrinologist with severe short stature (approx. -4 SDS). They were otherwise asymptomatic and only had mild facial dysmorphisms. Extensive endocrine work-up did not reveal an underlying etiology. Exome sequencing was performed in each family.

Results

Exome sequencing identified the presence of the same heterozygous missense variant c.C5183T (p.Ala1728Val) i

SUBMITTER: de Bruin C 

PROVIDER: S-EPMC5135661 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature