An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalop...

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Published in:	BMC genetics Vol. 13; no. 1; p. 18
Main Authors:	Bouhouche, Ahmed, Benomar, Ali, Errguig, Leila, Lachhab, Lamiae, Bouslam, Naima, Aasfara, Jehanne, Sefiani, Sanaa, Chabraoui, Layachi, El Fahime, Elmostafa, El Quessar, Abdeljalil, Jiddane, Mohamed, Yahyaoui, Mohamed
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 21-03-2012 BioMed Central BMC
Subjects:	Adult Amino acids Analysis Base Sequence Biomedical research Body Dysmorphic Disorders - genetics Chromosome Mapping Chromosomes Chromosomes, Human, Pair 17 - genetics Disease Female Gene loci Genes Genetic aspects Genetics Genome-Wide Association Study Genomes Genotype Haplotypes Humans Identification and classification Leukoencephalopathy Male Medical imaging Morocco Mutation Retinitis Pigmentosa - genetics Sequence Analysis, DNA Skin Software Spectrum analysis Stroke (Disease) Stroke - genetics Studies Veins & arteries Morocco
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Summary:	Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	1471-2350 1471-2156 1471-2350 1471-2156
DOI:	10.1186/1471-2350-13-18