Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

ABSTRACT:

Background

Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood.

Methods

We performed clinical and genetic studies of samples obtained from 43 patients with gigantism and then sequenced an implicated gene in samples from 248 patients with acromegaly.

Results

We observed microduplication on chromosome Xq26.3 in samples from 13 patients with gigantism; of these samples, 4 were obtained from members of two unrelated kindreds, and 9 were from patients with sporadic cases. All the patients had disease onset during early childhood. Of the patients with gigantism who did not carry an Xq26.3 microduplication, none presented before the age of 5 years. Genomic characte

SUBMITTER: Trivellin G 

PROVIDER: S-EPMC4291174 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature