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      https://www.ias.ac.in/article/fulltext/jgen/095/04/0905-0909

    • Keywords

       

      acromesomelic dysplasia; India; novel mutation; natriuretic peptide receptor; NPR2 gene.

    • Abstract

       

      Acromesomelic dysplasia, type Maroteaux is a disorder characterized by disproportionate short stature predominantly affecting the middle and distal segments of the upper and lower limbs. It is an autosomal recessive disorder due to mutation in NPR2 gene which impairs skeletal growth. To screen the mutations in the gene NPR2, all of its coding exons and splice junction sites were PCR amplified from genomic DNA of affected individuals of four families and sequenced. Four homozygous mutations in four different families were identified. These include three novel mutations including a deletion frameshift mutation (p.Cys586Ter), one nonsense mutation (p.Arg479Ter), one missense mutation (p.Val187Asp) and one reported missense mutation (p.Tyr338Cys). The study describes phenotypes of Indian patients and expands the mutation spectrum of the disorder.

    • Author Affiliations

       

      PRIYANKA SRIVASTAVA1 MONI TUTEJA1 ASHWIN DALAL2 KAUSIK MANDAL1 SHUBHA R. PHADKE1

      1. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226 014, India
      2. Department of Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500 001, India
    • Dates

       
  • Journal of Genetics | News

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