Research Article

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy†

  1. L. Rodriguez-Revenga1,2,
  2. I. Madrigal1,2,
  3. L.S. Alkhalidi3,
  4. L. Armengol4,
  5. E. González4,
  6. C. Badenas1,2,
  7. X. Estivill1,5,
  8. M. Milà1,2,*

Article first published online: 12 APR 2007

DOI: 10.1002/ajmg.a.31521

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 143A, Issue 9, pages 916–920, 1 May 2007

Additional Information

How to Cite

Rodriguez-Revenga, L., Madrigal, I., Alkhalidi, L., Armengol, L., González, E., Badenas, C., Estivill, X. and Milà, M. (2007), Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. American Journal of Medical Genetics Part A, 143A: 916–920. doi: 10.1002/ajmg.a.31521

Author Information

  1. 1

    Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain

  2. 2

    IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain

  3. 3

    Department of Health and Medical Services, Rashid Hospital, Dubai, United Arab Emirates

  4. 4

    Genes and Disease Programme, Centre for Genomic Regulation (CRG), Barcelona Biomedical Research Park, Barcelona, Spain

  5. 5

    Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF), Barcelona, Spain

*Biochemistry and Molecular Genetics Department, Hospital Clínic, C/Villarroel 170, 08036 Barcelona, Spain.

  1. †

    How to cite this article: Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M. 2007. Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. Am J Med Genet Part A 143A:916–920.

Publication History

  1. Issue published online: 23 APR 2007
  2. Article first published online: 12 APR 2007
  3. Manuscript Accepted: 7 SEP 2006
  4. Manuscript Received: 20 FEB 2006

Funded by

  • “Fondo de Investigación Sanitaria”, Spain. Grant Numbers: PI050776, PI050159, FS041126, RGPG, (G03/184)
  • Genome Spain

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Keywords:

  • microarray comparative genomic hybridization;
  • Norrie disease;
  • NDP gene;
  • MAOA and MAOB genes;
  • EFHC2 gene;
  • contiguous gene syndrome

Abstract

Norrie disease (ND) is an X-linked disorder, inherited as a recessive trait that, therefore, mostly affects males. The gene responsible for ND, called NDP, maps to the short arm of chromosome X (Xp11.4-p11.3). We report here an atypical case of ND, consisting of a patient harboring a large submicroscopic deletion affecting not only the NDP gene but also the MAOA, MAOB, and EFHC2 genes. Microarray comparative genomic hybridization (CGH) analysis showed that 11 consecutive bacterial artificial chromosome (BAC) clones, mapping around the NDP gene, were deleted. These clones span a region of about 1 Mb on Xp11.3. The deletion was ascertained by fluorescent in situ hybridization (FISH) analysis with different BAC clones located within the region. Clinical features of the proband include bilateral retinal detachment, microcephaly, severe psychomotor retardation without verbal language skills acquired, and epilepsy. The identification and molecular characterization of this case reinforces the idea of a new contiguous gene syndrome that would explain the complex phenotype shared by atypical ND patients. © 2007 Wiley-Liss, Inc.

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