{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T20:19:06Z","timestamp":1790540346397,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,6,24]],"date-time":"2016-06-24T00:00:00Z","timestamp":1466726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research (ICMR)","doi-asserted-by":"crossref","award":["54\/5\/2008-BMS"],"award-info":[{"award-number":["54\/5\/2008-BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Acid sphingomyelinase (ASM)\u2010deficient Niemann\u2013Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the <jats:italic>SMPD1<\/jats:italic> gene. To date, around 185 mutations have been reported in patients with ASM\u2010deficient NPD world\u2010wide, but the mutation spectrum of this disease in India has not yet been reported. The aim of this study was to ascertain the mutation profile in Indian patients with ASM\u2010deficient NPD. We sequenced <jats:italic>SMPD1<\/jats:italic> in 60 unrelated families affected with ASM\u2010deficient NPD. A total of 45 distinct pathogenic sequence variants were found, of which 14 were known and 31 were novel. The variants included 30 missense, 4 nonsense, and 9 frameshift (7 single base deletions and 2 single base insertions) mutations, 1 indel, and 1 intronic duplication. The pathogenicity of the novel mutations was inferred with the help of the mutation prediction software MutationTaster, SIFT, Polyphen\u20102, PROVEAN, and HANSA. The effects of the identified sequence variants on the protein structure were studied using the structure modeled with the help of the SWISS\u2010MODEL workspace program. The p. (Arg542*) (c.1624C&gt;T) mutation was the most commonly identified mutation, found in 22% (26 out of 120) of the alleles tested, but haplotype analysis for this mutation did not identify a founder effect for the Indian population. To the best of our knowledge, this is the largest study on mutation analysis of patients with ASM\u2010deficient Niemann\u2013Pick disease reported in literature and also the first study on the <jats:italic>SMPD1<\/jats:italic> gene mutation spectrum in India. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37817","type":"journal-article","created":{"date-parts":[[2016,6,25]],"date-time":"2016-06-25T23:55:12Z","timestamp":1466898912000},"page":"2719-2730","source":"Crossref","is-referenced-by-count":23,"title":["Spectrum of <i>SMPD1<\/i> mutations in Asian\u2010Indian patients with acid sphingomyelinase (ASM)\u2010deficient Niemann\u2013Pick disease"],"prefix":"10.1002","volume":"170","author":[{"given":"Prajnya","family":"Ranganath","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Genetics Hyderabad Telangana India"},{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics 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