GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, Suryanarayana S, Sheela Nampoothiri, Madhulika Kabra, Neerja Gupta, Sumita Danda, Kalpana Gowrishankar, Shubha R. Phadke, Seema Kapoor, Mahesh Kamate, I. C. Verma, Ratna Dua Puri, V. H. Sankar, A. Radha Rama Devi, S. J. Patil, Prajnya Ranganath, S. Jamal Md Nurul Jain, Meenal AgarwalAnkur Singh, Pallavi Mishra, Parag M. Tamhankar, Puthiya Mundyat Gopinath, H. A. Nagarajaram, Kapaettu Satyamoorthy, Katta Mohan Girisha

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)


Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA. All the exons and the adjacent intronic regions of the gene were amplified and sequenced in sixty-eight unrelated Indian families. We identified 136 mutant alleles comprising of 40 different mutations. We report twenty-two novel mutations that comprise of seventeen missense (p.Asn32Thr, p.Leu36Arg, p.Pro52Leu, p.Pro77Ser, p.Cys79Arg, p.His142Pro, p.Tyr191Asp, p.Asn204Thr, p.Gly188Ser, p.Phe216Ser, p.Trp230Cys, p.Ala291Ser, p.Gly317Arg, p.His329Pro, p.Arg386Ser, p.Glu450Gly, p.Cys501Ser), three splice-site variants (c.120+1G>C, c.1003-3C>G, c.1139+1G>A), one nonsense mutation (p.Gln414*) and one frameshift mutation (p.Pro420Leufs*440). Eighteen mutations have been reported earlier. Among these p.Ser287Leu (8.82%), p.Phe216Ser (7.35%), p.Asn32Thr (6.61%) and p.Ala291Ser (5.88%) were the most frequent mutations in Indian patients but were rare in the mutational profiles reported in other populations. These results indicate that the Indian patients may have a distinct mutation spectrum compared to those of other populations. Mutant alleles in exon 1, 7 and 8 accounted for 44.8% of the mutations, and sequencing of these exons initially may be a cost-effective approach in Asian Indian patients. This is the largest study on molecular analysis of patients with MPS IVA reported in the literature, and the first report from India.

Original languageEnglish
Pages (from-to)2793-2801
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
Publication statusPublished - 01-11-2014

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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