{"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":1786976851549,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T00:00:00Z","timestamp":1651449600000},"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":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the\n                    <jats:italic>COASY<\/jats:italic>\n                    gene. Herein, we describe the clinical and neuroradiological profile of nine affected fetuses\/neonates from five families identified with a common\n                    <jats:italic>COASY<\/jats:italic>\n                    : c.1486\u20103C&gt;G biallelic variant. Four of the five families were identified after data reanalysis of unresolved, severe PCH like phenotype and the fifth family through collaboration. The common antenatal phenotype was cerebellar hypoplasia. Microcephaly, arthrogryposis, and intrauterine growth restriction were the shared postnatal findings. The neurological manifestations included seizures, poor sucking, and spasticity. Novel findings of corpus callosum agenesis, simplified gyral pattern, normal sized pons, optic neuropathy, and a small thorax are reported in this series. The allele frequency of the\n                    <jats:italic>COASY<\/jats:italic>\n                    : c.1486\u20103C&gt;G variant was 0.62% in the available Asian Indian database. We describe this as a possible common Indian origin variant. To the best of our knowledge, this is the largest PCH12 series reported.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62768","type":"journal-article","created":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T06:50:36Z","timestamp":1651474236000},"page":"2339-2350","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<scp>\n                      <i>COASY<\/i>\n                    <\/scp>\n                    related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum"],"prefix":"10.1002","volume":"188","author":[{"given":"Ranjana","family":"Mishra","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Gangaram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samarth","family":"Kulshreshtha","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Gangaram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kausik","family":"Mandal","sequence":"additional","affiliation":[{"name":"Sanjay Gandhi Post\u2010Graduate Institute  Lucknow Uttar Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Khurana","sequence":"additional","affiliation":[{"name":"The Ultrasound Lab  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Diego\u2010\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Centogene AG  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pradas","sequence":"additional","affiliation":[{"name":"Centogene AG  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1344-2831","authenticated-orcid":false,"given":"Renu","family":"Saxena","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Gangaram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6624-082X","authenticated-orcid":false,"given":"Shubha","family":"Phadke","sequence":"additional","affiliation":[{"name":"Sanjay Gandhi Post\u2010Graduate Institute  Lucknow Uttar Pradesh 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":"Sanjay Gandhi Post\u2010Graduate Institute  Lucknow Uttar Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzena","family":"Masih","sequence":"additional","affiliation":[{"name":"Sanjay Gandhi Post\u2010Graduate Institute  Lucknow Uttar Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema","family":"Sud","sequence":"additional","affiliation":[{"name":"Department of CT Scan and MRI Sir Gangaram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-5539","authenticated-orcid":false,"given":"Ishwar Chander","family":"Verma","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Gangaram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2694-6147","authenticated-orcid":false,"given":"Ratna","family":"Dua Puri","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics, Sir Gangaram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22704"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_374"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn105"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41422-020-0322-9"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3841"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.008"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23880"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1793-z"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.67"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23835"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-04642-4"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0528-2"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2015.05.014"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31403"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10863"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-020-01135-5"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3592"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20140125"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa1034"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0826-2"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0233-0"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2015.105"}],"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.62768","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62768","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62768","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T02:16:21Z","timestamp":1692843381000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62768"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,2]]},"references-count":24,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/ajmg.a.62768"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62768","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,2]]},"assertion":[{"value":"2021-11-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}