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A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22

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Abstract

We describe the clinical, radiographic, and genetic features of a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait. Six affected members of the family had partial complex seizures often associated with behavioral abnormalities. On MRI, three patients had a thickened irregular cortex in the lateral occipital lobes with small gyri. Ahigh-density genome-wide scan with 10,000 SNPs established linkage by homozygosity mapping to a 14-Mb region on chromosome 6q16–q22. Candidate genes by function (TUBE1, GRIK2, GPRC6A, GPR6, NR2E1, MICAL1, and MARCKS) in this locus were screened for mutations.

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Acknowledgment

We are extremely grateful to all members of the family. We wish to thank Dr. Isabelle Gourfinkel-An and Prof. Halima Belaidi for helpful discussions, and Dr. Giovani Stevanin for help with linkage analysis. This work was supported by INSERM, the ADRMGNP in France, and the University Mohamed Souissi of Rabat in Morocco. O.B., B.S., L.F., O.R., and L.E. are participants of the PAI MA/108/04 project between Morocco and France.

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Authors and Affiliations

  1. UMR_S679 Neurologie and Thérapeutique Expérimentale, INSERM, 75013, Paris, France

    Bouchra Ouled Amar Ben Cheikh, Stéphanie Baulac, Philippe Couarch, Merle Ruberg & Eric LeGuern

  2. UPMC Univ Paris 06, UMR_S679, 75013, Paris, France

    Bouchra Ouled Amar Ben Cheikh, Stéphanie Baulac, Philippe Couarch, Merle Ruberg & Eric LeGuern

  3. Service de Neurophysiologie Clinique, Hôpital des Spécialités, CHU de Rabat-Salé, Rabat, Morocco

    Bouchra Ouled Amar Ben Cheikh, Fatiha Lahjouji, Wafae Regragui & Reda Ouazzani

  4. Hôpital psychiatrique ER-RAZI, CHU de Rabat-Salé, Rabat, Morocco

    Naima Khalili

  5. Center for NeuroImaging Research, CENIR, Service de Neuroradiologie, Hôpital de la Salpêtrière, Paris Cedex 13, France

    Stéphane Lehericy

  6. Service de Neurologie B et de Neurogénétique, Hôpital des Spécialités, CHU de Rabat-Salé, Rabat, Morocco

    Ahmed Bouhouche, Ali Benomar & Mohamed Yahyaoui

  7. Centre National de Génotypage, Evry, France

    Simon Heath

  8. Université Mohamed V Souissi, Rabat, Morocco

    Taib Chkili

  9. Service de Neuroradiologie, Hôpital des Spécialités, CHU de Rabat-Salé, Rabat, Morocco

    Mohamed Jiddane

  10. Département de Génétique et Cytogénétique, AP-HP, Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Paris, France

    Eric LeGuern

  11. INSERM UMR679 Bâtiment Pharmacie, Hôpital Pitié-Salpêtrière, 47 Bd de l’hôpital, 75013, Paris, France

    Eric LeGuern

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  1. Bouchra Ouled Amar Ben Cheikh
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  11. Simon Heath
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Corresponding author

Correspondence to Eric LeGuern.

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Fig. S1

LOD score curves of the 22 chromosomes calculated with Merlin software (GIF 248 KB)

High resolution image file (TIFF 245 KB).

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Ouled Amar Ben Cheikh, B., Baulac, S., Lahjouji, F. et al. A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22. Neurogenetics 10, 35–42 (2009). https://doi.org/10.1007/s10048-008-0143-3

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  • DOI: https://doi.org/10.1007/s10048-008-0143-3

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