Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.

ABSTRACT:

Background

Heterozygous mutations in the AT-hook DNA-binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia-Gibbs syndrome (OMIM #615829). Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.

Methods

Description of the clinical materials of two Chinese boys who were diagnosed with Xia-Gibbs syndrome based on clinical presentations and next generation sequencing. Review of clinical features and AHDC1 mutations in previously reported Xia-Gibbs syndrome patients together with our two new patients.

Results

The Xia-Gibbs syndrome patients exhibited short stature,

SUBMITTER: Cheng X 

PROVIDER: S-EPMC6465669 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature