Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.

ABSTRACT:

Background

Recently, whole exome sequencing identified heterozygous defects in the aggrecan (ACAN) gene in three families with short stature and advanced bone age.

Objective

We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and premature growth cessation. This is the first case of targeted sequencing of ACAN in this phenotype and confirms that ACAN sequencing is warranted in patients with this rare constellation of findings.

Results

We present a 5 1/2-year-old male with a family history of short stature in three generations. The maternal grandfather stands 144.5 cm (Ht SDS -4.7), mother 147.7 cm (Ht SDS -2.6), and index case 99.2 cm (Ht SDS -2.7). Our prepubertal patient has significant bone age advan

SUBMITTER: Quintos JB 

PROVIDER: S-EPMC4501863 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature