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Article

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

European journal of medical genetics - 1 Nov 2013

Buchert Rebecca, Uebe Steffen, Radwan Farah, Tawamie Hasan, Issa Shaher, Shimazaki Haruo, Henneke Marco, Ekici Arif B, Reis André, Abou Jamra Rami

Abstract excerpt

Homozygosity mapping and exome sequencing in two affected siblings of a consanguineous family with mild intellectual disability, spastic paraplegia, and strabismus revealed a homozygous premature stop mutation at codon 139 of C12ORF65. Two previous studies reported truncating mutations at positions 84 and 132 of the protein. However, symptoms of the referred patients were only partially overlapping. Considering...

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PMID: 24080142
DOI: 10.1016/j.ejmg.2013.09.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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