{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T09:08:19Z","timestamp":1719652099394},"reference-count":7,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Geburtshilfe Neonatol"],"published-print":{"date-parts":[[2021,2]]},"abstract":"Abstract<\/jats:title>Introduction\u2002To date, several genes involved in the pathogenesis of HD have been\n recognized. Out of these, the RET gene (chromosomal locus 10q11), one of the\n first genes identified in combination with HD, is still considered the basis for\n HD development. However, even with over a hundred RET gen coding sequence\n mutations identified, the mutations do not fully explain the observed sex bias\n of HD and the elevated risk of developing HD among siblings. Thus, our aim was\n to evaluate the clinical relevance of an as yet undescribed genotype in a family\n with HD to improve genetic counseling for families with RET mutation-associated\n HD.Patients\u2002This case report provides an overview of a family with a history of\n HD with a novel, unreported autosomal dominant RET\n mutation.Results\/Summary\u2002The family examined in this study clearly\n demonstrates that (1) the genotype to phenotype correlation of patients with RET\n mutation-associated HD is not directly related, and (2) genetic mechanisms\n underlying the different HD phenotypes, as well as the model of inheritance of\n HD, are complex and not yet fully understood. As such, a multifactorial genesis\n of HD appears more likely and should be the center of genetic counseling for\n concerned families. Having identified another RET mutation with a possible\n correlation of severity of HD and gender will aid in filling the gaps of the\n incomplete picture of the pathogenesis of HD.<\/jats:p>","DOI":"10.1055\/a-1230-4045","type":"journal-article","created":{"date-parts":[[2020,9,17]],"date-time":"2020-09-17T23:21:24Z","timestamp":1600384884000},"page":"80-82","source":"Crossref","is-referenced-by-count":1,"title":["Hirschsprung Disease \u2013 Clinical Relevance of RET\n Mutations"],"prefix":"10.1055","volume":"225","author":[{"given":"Julia Katharina","family":"Wenskus","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, University Medical Center\n Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deirdre","family":"Vincent","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, University Medical Center\n Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, University Medical Center\n Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konrad","family":"Reinshagen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, University Medical Center\n Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2020,9,17]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1093\/hmg\/4.8.1381","article-title":"Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung\n disease","volume":"4","author":"T Attie","year":"1995","journal-title":"Hum Mol Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s00383-015-3730-z","article-title":"Familial Hirschsprung\u2019s disease: a systematic review","volume":"31","author":"D Mc Laughlin","year":"2015","journal-title":"Pediatr Surg Int"},{"key":"ref3"},{"key":"ref4","first-page":"568","article-title":"A genetic study of Hirschsprung disease","volume":"46","author":"J A Badner","year":"1990","journal-title":"Am J Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1055\/s-0036-1593991","article-title":"European Paediatric Surgeons\u2019 Association Survey on the Management of\n Hirschsprung Disease","volume":"27","author":"A Zani","year":"2017","journal-title":"Eur J Pediatr Surg"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.2007.053959","article-title":"Hirschsprung disease, associated syndromes and genetics: a review","volume":"45","author":"J Amiel","year":"2008","journal-title":"J Med Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/367380a0","article-title":"Defects in the kidney and enteric nervous system of mice lacking the tyrosine\n kinase receptor Ret","volume":"367","author":"A Schuchardt","year":"1994","journal-title":"Nature"}],"container-title":["Zeitschrift f\u00fcr Geburtshilfe und Neonatologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1230-4045.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T23:39:18Z","timestamp":1613691558000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1230-4045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,17]]},"references-count":7,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2021,2,18]]},"published-print":{"date-parts":[[2021,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1230-4045","relation":{},"ISSN":["0948-2393","1439-1651"],"issn-type":[{"value":"0948-2393","type":"print"},{"value":"1439-1651","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,17]]}}}