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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/096/06/1015-1020

    • Keywords

       

      Norrie disease; NDP gene; MAOB gene; EFHC2 gene; genomic microarray; contiguous deletion syndrome

    • Abstract

       

      Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of theNDPregion containing theMAOBandEFHC2genes,which causes eye defects but no cognitive disability.We detected a deletion of 494.6 kb atXp11.3 in both the proband and carrier mother. This deletionwas then used as the molecularmarker in prenatal diagnosis for two subsequent pregnancies. The deletion was absent in one of the foetuses, who remain without any abnormalities at 2 years of age. The proband shows the typical ocular clinical features of ND including bilateral retinal detachment, microphthalmia, atrophic irides, corneal opacification, and cataracts, but no symptoms of microcephaly, intellectual disability, and epilepsy. This familial study demonstrates that a deficiency in one of two MAO genes may not lead to psychomotor delay, and deletion of EFHC2 may not cause epilepsy. Our observations provide new information on the genotype–phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of ND

    • Author Affiliations

       

      BEI JIA1 LIPING HUANG1 YAOYU CHEN2 SIPING LIU1 CUIHUA CHEN1 KE XIONG3 LANLIN SONG2 YULAI ZHOU2 XINPING YANG4 5 MEI ZHONG1

      1. yangxinping@smu.edu.cn;
      2. Department of Regeneration Medicine, School of Pharmaceutical Science, Jilin University, Changchun 130021, People’s Republic of China
      3. Department of Ophthalmology,Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, People’s Republic of China
      4. Center for Genetic and Developmental Systems Biology,Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, People’s Republic of China
      5. Laboratory of Systems Neuroscience, Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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