A Syndromic Extreme Insulin Resistance Caused by Biallelic POC1A Mutations in Exon 10
August 2017
in “
European journal of endocrinology
”
Studysummary This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome. Our plain-language summary of this paper — not a Tressless recommendation.
In 2017, researchers identified a homozygous frameshift mutation in the POC1A gene, specifically a duplication in exon 10, in a patient with short stature, facial hirsutism, alopecia, dyslipidemia, and extreme insulin resistance. This mutation led to a truncated protein affecting centriole assembly and ciliogenesis. The patient's symptoms were somewhat different from those of SOFT syndrome, which is also caused by biallelic loss-of-function mutations in POC1A, suggesting that mutations in exon 10 may lead to a distinct clinical condition. This case, along with a previous similar case, highlights the clinical heterogeneity that can result from alternative transcript processing of genes. The study suggests that POC1A mutations in exon 10 should be considered in patients presenting with extreme insulin resistance and short stature.
