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      https://www.ias.ac.in/article/fulltext/jgen/100/0066

    • Keywords

       

      CNTNAP5 gene; chromosome 2q14.3; complex chromosomal rearrangement.

    • Abstract

       

      We report a patient with loss of chromosome region 2q14.3 encompassing exon 1 of the gene CNTNAP5. The deletion occurred in association with a de novo complex chromosomal rearrangement, characterized by routine G-banding, fluorescence in situ hybridization and microarray analysis. The presented patient’s phenotype is dominated by severe early childhood weight gain, severespeech delay and behavioural problems. To our knowledge, a few similar patients have been reported previously. CNTNAP5 is a member of the neurexin gene family and is associated with autism spectrum disorder and potentially other behavioural and neurodevelopmental disorders. Recent data point to its possible role in obesity and/or metabolism. The phenotype of the herein presented pediatric patient corroborates CNTNAP5’s pathogenic role in human disease.

    • Author Affiliations

       

      ANNA LENGYEL1 ÉVA PINTI1 KARIN NEBRAL2 HENRIETT PIKÓ3 ANIKÓ UJFALUSI4 OSKAR A. HAAS2 GYÖRGY FEKETE1 IRÉN HALTRICH1

      1. Department of Pediatrics II, Semmelweis University, Budapest 1094, Hungary
      2. Department of Clinical Genetics, St. Anna Kinderkrebsforschung, Children’s Cancer Research Institute (CCRI), 1090 Vienna, Austria
      3. Department of Internal Medicine, Semmelweis University, Budapest 1083, Hungary
      4. Department of Laboratory of Medicine, University of Debrecen, Debrecen 4032, Hungary
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