{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:31Z","timestamp":1786976851517,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T00:00:00Z","timestamp":1742256000000},"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":[[2025,7]]},"abstract":"ABSTRACT<\/jats:title>\n \n SMN2<\/jats:italic>\n copy number fails to answer variability in the SMA phenotype completely. We aimed to evaluate the copy number variation in\n NAIP<\/jats:italic>\n and\n SMN2<\/jats:italic>\n : c.859G>C and A\u201044G variants as disease modifiers and their correlation with the SMA phenotype. Based on the motor milestones achieved, patients with homozygous deletion of\n SMN1<\/jats:italic>\n exon 7 were classified into SMA Types I\u2013IV. The copy numbers of\n SMN1<\/jats:italic>\n exon 8,\n SMN2<\/jats:italic>\n , and\n NAIP<\/jats:italic>\n were determined using the MLPA assay. Sanger sequencing was performed for the\n SMN2<\/jats:italic>\n variants. The cohort of 142 patients included nearly equal numbers of patients of SMA Types I, II, and III. The disease severity correlated with the\n SMN2<\/jats:italic>\n and\n NAIP<\/jats:italic>\n copy number, with a lower copy number predicting a worse outcome. In addition, we evaluated the SMA genotype (\n SMN1<\/jats:italic>\n exon 8,\n SMN2<\/jats:italic>\n copy number, and\n NAIP<\/jats:italic>\n copy number) as a predictor of SMA severity and found that most of the SMA Type I patients had a genotype of 0\u20132\u20130, SMA Type II patients had a genotype of 0\u20133\u20131, Type III patients had a genotype of 0\u20133\u20132 and 0\u20133\u20131, and Type IV patients had a genotype of 0\u20134\u20132. None of the patients from the cohort had the two modifier variants. The combined genotype of\n SMN1<\/jats:italic>\n exon 8 copy number\u2013\n SMN2<\/jats:italic>\n copy number\u2013\n NAIP<\/jats:italic>\n copy number could accurately predict the SMA phenotype. The absence of\n SMN2<\/jats:italic>\n : c.859G>C and A\u201044G variants in any of our patients points to the rarity of these variants in the Indian population.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.64057","type":"journal-article","created":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T08:33:06Z","timestamp":1742286786000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Correlation Between Neuronal Apoptosis Inhibitory Protein (\n NAIP<\/i>\n ),\n SMN2<\/i>\n , and SMA Phenotypes: A Tertiary Care Centre Experience From India"],"prefix":"10.1002","volume":"197","author":[{"given":"Soumalya","family":"Chakraborty","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amita","family":"Singh","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9719-5147","authenticated-orcid":false,"given":"Shama","family":"Perveen","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhumita Roy","family":"Chowdhury","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salman","family":"Ali","sequence":"additional","affiliation":[{"name":"Division of Genetics, 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":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheffali","family":"Gulati","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3315-9782","authenticated-orcid":false,"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,18]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2017.13.1.27"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.079004"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.104"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.4.281"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"issue":"6","key":"e_1_2_11_7_1","first-page":"1503","article-title":"Molecular Basis of Spinal Muscular Atrophy in Chinese","volume":"57","author":"Chang J. 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