ArticleTranslational pediatrics2025
Two cases of autosomal dominant familial short stature associated with
Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Variants in collagen genes can cause diverse growth plate disorders frequently associated with short stature. This study aimed to evaluate clinical phenotypes in two autosomal dominant familial short stature (AD-FSS), along with the responses to recombinant human growth hormone (rhGH). Methods: Two AD-FSS children treated with rhGH from two families were included. Next-generation sequencing (NGS) was performed to screen the gene variants that may be related to short stature. The genetic test results were evaluated using the guidelines set by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP). The response of the children to rhGH was evaluated. Results: The first case (child 1) was a girl aged 8 years and 7 months with a height of 118.8 cm. Her mother had a height of 145 cm. The child's maternal aunt, grandmother, grandmother's sisters, and great-grandmother were also under 150 cm in height, sharing the characteristic of short limbs. NGS revealed a c.688G>T heterozygous variant in exon 5 of the Conclusions: We presented two AD-FSS cases carrying the c.688G>T variant in exon 5 and the c.2458G>A variant in exon 32 of the
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