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

L. Rodriguez-Revenga, I. Madrigal, L. S. Alkhalidi, L. Armengol, E. González, C. Badenas, Xavier P. Estivill, M. Milà

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18 Citations (Scopus)


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 BAG 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.

Original languageEnglish
Pages (from-to)916-920
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
Publication statusPublished - 1 May 2007
Externally publishedYes



  • Contiguous gene syndrome
  • EFHC2 gene
  • MAOA and MAOB genes
  • Microarray comparative genomic hybridization
  • NDP gene
  • Norrie disease

ASJC Scopus subject areas

  • Genetics(clinical)

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