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Article

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

European journal of endocrinology - 1 Nov 2017

Giorgio Elisa, Rubino Elisa, Bruselles Alessandro, Pizzi Simone, Rainero Innocenzo, Duca Sergio, Sirchia Fabio, Pasini Barbara, Tartaglia Marco, Brusco Alfredo

Abstract excerpt

POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss-of-function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short...

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Identifiers

PMID: 28819016
DOI: 10.1530/EJE-17-0431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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