Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

ABSTRACT:

Context

Many children with idiopathic short stature have a delayed bone age. Idiopathic short stature with advanced bone age is far less common.

Objective

The aim was to identify underlying genetic causes of short stature with advanced bone age.

Setting and design

We used whole-exome sequencing to study three families with autosomal-dominant short stature, advanced bone age, and premature growth cessation.

Results

Affected individuals presented with short stature [adult heights -2.3 to -4.2 standard deviation scores (SDS)] with histories of early growth cessation or childhood short stature (height SDS -1.9 to -3.5 SDS), advancement of bone age, and normal endocrine evaluations. Whole-exome sequencing identified novel heterozygous variants in ACAN, which encodes

SUBMITTER: Nilsson O 

PROVIDER: S-EPMC4121031 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature