Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

ABSTRACT:

Context

Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation.

Objective

We sought to characterize the phenotypic spectrum and response to growth-promoting therapies.

Patients and methods

One hundred three individuals (57 females, 46 males) from 20 families with autosomal dominant short stature and heterozygous ACAN mutations were identified and confirmed using whole-exome sequencing, targeted next-generation sequencing, and/or Sanger sequencing. Clinical information was collected from the medical records.

Results

Identified ACAN variants showed perfect cosegregation with phenotype. Adult individuals had mildly disproportionate short stature [median height, -2.8 standard deviation score (S

SUBMITTER: Gkourogianni A 

PROVIDER: S-EPMC5413162 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature