{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:38:51Z","timestamp":1788871131131,"version":"build-2803163510"},"reference-count":44,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T00:00:00Z","timestamp":1411344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Indian Council Medical Research, India"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N\u2010acetylgalactosamine\u20106\u2010sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the\n                      <jats:italic>GALNS<\/jats:italic>\n                      gene in Asian Indians with MPS IVA. All the exons and the adjacent intronic regions of the gene were amplified and sequenced in sixty\u2010eight unrelated Indian families. We identified 136 mutant alleles comprising of 40 different mutations. We report twenty\u2010two 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\u2010site variants (c.120\u2009+\u20091G\u2009&gt;\u2009C, c.1003\u20103C\u2009&gt;\u2009G, c.1139\u2009+\u20091G\u2009&gt;\u2009A), 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\u2010effective 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. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36735","type":"journal-article","created":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T16:47:58Z","timestamp":1411404478000},"page":"2793-2801","source":"Crossref","is-referenced-by-count":33,"title":["<i>GALNS<\/i>\n                    mutations in Indian patients with mucopolysaccharidosis IVA"],"prefix":"10.1002","volume":"164","author":[{"given":"Abdul Mueed","family":"Bidchol","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College Manipal University Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[{"name":"Pediatric Orthopedic Services Department of Orthopedics Kasturba Medical College Manipal University Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suryanarayana","family":"S","sequence":"additional","affiliation":[{"name":"Laboratory of Computational Biology &amp; Bioinformatics Facility Centre for DNA Fingerprinting and Diagnostics Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences and Research Center Kochi Kerala India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[{"name":"Genetics Unit Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Genetics Unit Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumita","family":"Danda","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Christian Medical College Vellore Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalpana","family":"Gowrishankar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Childs Trust Medical Research Foundation Kanchi Kamakoti Childs Trust Hospital Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow Uttar Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema","family":"Kapoor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Moulana Azad Medical College New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahesh","family":"Kamate","sequence":"additional","affiliation":[{"name":"Pediatric Neurology KLE University JNMC Belgaum Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.C.","family":"Verma","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics Sir Ganga Ram Hospital New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ratna Dua","family":"Puri","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics Sir Ganga Ram Hospital New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.H.","family":"Sankar","sequence":"additional","affiliation":[{"name":"Genetic Clinic Department of Pediatrics SAT Hospital Government Medical College Thiruvananthapuram Kerala India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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