{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:42Z","timestamp":1786976862075,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,4,21]],"date-time":"2018-04-21T00:00:00Z","timestamp":1524268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Japan Agency of Medical Research and Development, AMED","award":["17ek0109270"],"award-info":[{"award-number":["17ek0109270"]}]},{"name":"Grant-in-Aid for Scientific Research (KAKENHI)","award":["16H05361"],"award-info":[{"award-number":["16H05361"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>\n                    In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of\n                    <jats:italic>SOX10<\/jats:italic>\n                    . She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination. The p.Ser282GlnfsTer12 mutation presumably escapes from nonsense\u2010mediated decay and may generate a dominant\u2010negative effect. We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by\n                    <jats:italic>SOX10<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.38657","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T00:10:11Z","timestamp":1524355811000},"page":"1195-1199","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel\n                    <i>SOX10<\/i>\n                    mutation"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0950-7265","authenticated-orcid":false,"given":"Yuko","family":"Akutsu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Shirai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Takei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"},{"name":"Department of Neonatology Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yudai","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"},{"name":"Department of Pediatric Surgery University of Tsukuba Tsukuba Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Aoyama","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"},{"name":"Department of Pediatric Surgery University of Tsukuba Tsukuba Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akimitu","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatoshi","family":"Imamura","sequence":"additional","affiliation":[{"name":"Department of Neonatology Tsuchiura Kyodo Hospital Tsuchiura Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Enokizono","sequence":"additional","affiliation":[{"name":"Department of 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