{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T02:30:29Z","timestamp":1785551429764,"version":"3.56.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T00:00:00Z","timestamp":1602633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chromosome 5q related Spinal muscular atrophy (SMA) is an autosomal recessive, progressive, neuromuscular disorder most commonly caused by homozygous deletion of exon 7 or exon 7 and 8 of <jats:italic>SMN1<\/jats:italic> gene. Being the leading genetic cause of infant mortality, studies of its prevalence and incidence are necessary. Carrier testing for the common pathogenic variant for SMA is offered to the couples visiting our tertiary care hospital in North India. Subjects were tested for SMA carrier status by Multiplex Ligation\u2010dependent Probe amplification (MLPA) technique for deletion of exons 7 and 8 of <jats:italic>SMN1<\/jats:italic> gene. The retrospective data of individuals tested for SMA carrier status in last 4\u2009years (2016\u20132019) was evaluated. Six hundred and six individuals without family history of SMA or carrier of SMA who were subjected to MLPA based screening for SMA carrier status were included in the study. The carrier frequency of <jats:italic>SMN1<\/jats:italic> deletion (deletion of exon 7 and\/or exon 8) was found to be 1 in 38 (16 out of 606). The catchment area of our medical genetics clinic covering the state of Uttar Pradesh (16.5% of Indian population according to <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/censusindia.gov.in\">censusindia.gov.in<\/jats:ext-link>, 2011) and neighboring states, showing SMA carrier frequency of 1:38 in a cohort with no prior positive family history has important significance for policy making.<\/jats:p>","DOI":"10.1002\/ajmg.a.61918","type":"journal-article","created":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T08:33:55Z","timestamp":1602664435000},"page":"274-277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Carrier frequency of <scp><i>SMN1<\/i><\/scp>\u2010related spinal muscular atrophy in north Indian population: The need for population based screening program"],"prefix":"10.1002","volume":"185","author":[{"given":"Mayank","family":"Nilay","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0756-9868","authenticated-orcid":false,"given":"Amita","family":"Moirangthem","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Saxena","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kausik","family":"Mandal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6624-082X","authenticated-orcid":false,"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-014-0323-x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.phoj.2017.10.002"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000741"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440522"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066969"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.98514"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25101"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0246-2"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.84"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2011.0149"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318188d069"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001952"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0671-8"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61918","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61918","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61918","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:04:37Z","timestamp":1693811077000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61918"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,14]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/ajmg.a.61918"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61918","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,14]]},"assertion":[{"value":"2020-07-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}