Analysis of Genetic Factors in a Family With Short Stature.

Mol Genet Genomic MedSep 1, 2026
Case ReportMedical Genetics

Siqing Zhang, Tian Zuo, Youping Deng et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals.

Reported results

The male proband, aged 3 years and 10 months, had significant growth retardation, with a height of 91 cm (< 3rd percentile) and a weight of 13 kg (< 3rd percentile). Whole exome sequencing identified a missense mutation in the COL1A2 gene (c.577G>A, p.Gly193Ser) with maternal inheritance. Sanger sequencing confirmed this mutation in the mother and half-sister.

Authors' conclusions

In this family, we identified that variants in the COL1A2 and the GH1 can each cause short stature. This reflects both the genetic consistency and complexity of short stature, which is highly dependent on comprehensive genetic testing.

Source

PubMed · PMID 42703044

Published in Mol Genet Genomic Med. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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