{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T22:45:32Z","timestamp":1774565132915,"version":"3.50.1"},"reference-count":26,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1998,5,1]]},"abstract":"<jats:p>A 5-year-old girl with congenital central hypoventilation syndrome associated with Hirsch-sprung's disease (Ondine-Hirschsprung syndrome) representing a missense mutation in exon 12 of the receptor tyrosine kinase (RET) proto-oncogene is reported. Using a direct sequencing technique, genomic DNA obtained from the patient's peripheral leukocytes was analyzed for its nucleotide sequences in all 20 exons of the RET proto-oncogene, seven regions of the 1st to the 7th exon of the endothelin-B receptor gene and endothelin 3 gene, including sequences corresponding to proteolytic cleavage sites. The analysis revealed that adenine at the 2116th base in the 12th exon in the RET proto-oncogene was substituted by guanine, supposedly resulting in a mutation of Thr 706 to Ala. No other mutational change was observed in the gene examined in this case. Mutation analysis has not been described previously on the gene in this disease complex. Mutation in this case might impair the maturation of the tyrosine kinase protein and subsequently cause neurocristopathy supposedly originating from the neural crest.<\/jats:p>","DOI":"10.1542\/peds.101.5.924","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:44:32Z","timestamp":1092440672000},"page":"924-925","source":"Crossref","is-referenced-by-count":52,"title":["Point Mutation in Exon 12 of  the Receptor Tyrosine Kinase Proto-oncogene RET in Ondine-Hirschsprung Syndrome"],"prefix":"10.1542","volume":"101","author":[{"given":"Tetsuo","family":"Sakai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Wakizaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroo","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Nirasawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuo","family":"Itoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[1998,5,1]]},"reference":[{"key":"2021121007114345300_B1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/BF02388410","article-title":"Hirschsprung's disease, Ondine's curse and neuroblastoma manifestations of neurocristopathy.","volume":"19","author":"Roshkow","year":"1988","journal-title":"Pediatr Radiol."},{"key":"2021121007114345300_B2","first-page":"73","article-title":"Congenital central hypoventilation syndrome and Hirschsprung's disease\u2014case report and review of literature.","volume":"28","author":"Sakai","year":"1997","journal-title":"J Kyorin Med Soc."},{"key":"2021121007114345300_B3","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/ajmg.1320470313","article-title":"Congenital central hypoventilation syndrome: inheritance and relation to sudden infant syndrome.","volume":"47","author":"Weese-Mayer","year":"1993","journal-title":"Am J Med Genet."},{"key":"2021121007114345300_B4","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1055\/s-2008-1066229","article-title":"Central hypoventilation syndrome associated with ganglioneuroblastoma.","volume":"5","author":"Garcia","year":"1995","journal-title":"Eur J Pediatr Surg."},{"key":"2021121007114345300_B5","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S0046-8177(74)80021-3","article-title":"The neurocristopathies: a unifying concept of the disease arising in neural crest maldevelopment.","volume":"5","author":"Bolande","year":"1974","journal-title":"Hum Pathol."},{"key":"2021121007114345300_B6","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1006\/bbrc.1993.2392","article-title":"Exon structure and flanking intronic sequences of the human RET proto-oncogene.","volume":"196","author":"Ceccherini","year":"1993","journal-title":"Biochem Biophys Res Comm."},{"key":"2021121007114345300_B7","first-page":"3025","article-title":"DNA polymorphism and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.","volume":"9","author":"Ceccherini","year":"1994","journal-title":"Oncogene."},{"key":"2021121007114345300_B8","doi-asserted-by":"crossref","first-page":"3463","DOI":"10.1016\/S0021-9258(18)53717-0","article-title":"The human endothelin-B receptor gene. 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