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Article

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.

Clinical genetics - 1 Oct 2023

Liaqat Khurram, Bharadwaj Thashi, Shah Khadim, Nasir Abdul, Acharya Anushree, Khan Saadullah, Ullah Irfan, Schrauwen Isabelle, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

A short report with two affected siblings from consanguineous family born with intellectual disability, motor disability, language deficit, and hearing impairment and found to carry biallelic nonsense variant in KPTN gene known to be associated with KPTN gene related syndrome.

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Identifiers

PMID: 37311648
DOI: 10.1111/cge.14390
PMCID: PMC11041622

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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