Acromicric dysplasia (AD) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. It can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1). In Jun, 2016, de Bruin C and others published an article in << Hormone Researchin Paediatrics >> which title is “Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia”. Two patients (P1 age 10, and P2 age 7) from unrelated families presented to their endocrinologist with severe short stature (approx. -4 SDS). Exome sequencing was performed in each family. The sequencing identified the presence of the same heterozygous missense variant c.C5183T (p.Ala1728Val) in the FBN1 gene in both P1 and P2.
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