期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 56, 期 11, 页码 599-602出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2013.09.010
关键词
SPG; ARID; NGS; Homozygosity mapping; Syria
资金
- Deutsche Forschungsgemeinschaft (DFG) [AB393/2-1]
- German Intellectual Disability Network (MRNET) through German Ministry of Research and Education [01GS08160, 01GR0804-4]
- Grants-in-Aid for Scientific Research [23591253] Funding Source: KAKEN
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. (C) 2013 Elsevier Masson SAS. All rights reserved.
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