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

作者：Buchert Rebecca; Uebe Steffen; Radwan Farah; Tawamie Hasan; Issa Shaher; Shimazaki Haruo; Henneke Marco; Ekici Arif B; Reis Andre; Abou Jamra Rami^*

来源：European Journal of Medical Genetics, 2013, 56(11): 599-602.

DOI：10.1016/j.ejmg.2013.09.010

• SPG
• ARID
• NGS
• Homozygosity mapping
• Syria

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 our findings, we now conclude that truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia as common symptoms. Further, we confirm a genotypeephenotype correlation between increasing length of the truncated protein and decreasing severity of symptoms.

• 出版日期2013-11