Submicroscopic 16q24.2–q24.3 deletion in a family with nonsyndromic short stature

TL;DR

A family with unexplained short stature was found to have a rare genetic deletion on chromosome 16, suggesting a possible link to growth-related genes.

Contribution

The study reports a novel ~1.5-Mb deletion at 16q24.2–q24.3 associated with nonsyndromic short stature.

Findings

Array-based comparative genomic hybridization identified a heterozygous deletion in the 16q24.2–q24.3 region.

Whole-exome sequencing found no pathogenic variants, pointing to the deletion as a likely cause.

The deletion region may contain genes or regulatory elements important for skeletal growth.

Abstract

Array-based comparative genomic hybridization for a boy, his mother and his half-sister with etiology-unknown nonsyndromic short stature identified a hitherto unreported heterozygous ~1.5-Mb deletion at 16q24.2–q24.3. Whole-exome sequencing detected no pathogenic variants. Our results, in conjunction with previous reports of cases with similar deletions, indicate that the 16q24.2–q24.3 region provides a platform for submicroscopic deletions and possibly contains a gene(s) or regulatory elements involved in skeletal growth.

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