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Open Access Research article

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

Ahmed Bouhouche1*, Ali Benomar12, Leila Errguig23, Lamiae Lachhab1, Naima Bouslam1, Jehanne Aasfara1, Sanaa Sefiani24, Layachi Chabraoui25, Elmostafa El Fahime6, Abdeljalil El Quessar7, Mohamed Jiddane28 and Mohamed Yahyaoui12

Author Affiliations

1 Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco

2 Faculté de Médecine et de Pharmacie, Université Mohamed V Souissi, Rabat, Morocco

3 Service de Neurophysiologie clinique, Hôpital des Spécialités, Rabat, Morocco

4 Service d'anatomopathologie, Hôpital des Spécialités, Rabat, Morocco

5 Laboratoire de Biochimie, Hôpital d'Enfants, Rabat, Morocco

6 Plateforme génomique fonctionnelle, Unité d'Appui Technique à la Recherche Scientifique, CNRST, Rabat, Morocco

7 Hopital Universitaire International Cheikh Zaïed, Rabat, Morocco

8 Service de Neuroradiologie, Hôpital des Spécialités, Rabat, Morocco

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BMC Medical Genetics 2012, 13:18  doi:10.1186/1471-2350-13-18

Published: 21 March 2012

Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.