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Mutation of the <jats:italic>NRG1<\/jats:italic> gene causes aganglionosis, which leads to Hirschsprung disease. Two brothers of Acadian descent presented with a history of Hirschsprung disease, in association with other anomalies including congenital heart disease, learning difficulties, developmental issues, and hypopigmented hair patch. Molecular analysis in both siblings revealed a heterozygous pathogenic mutation in the <jats:italic>NGR1<\/jats:italic> gene (c.235C&gt;T [p.Arg79*]), that was inherited from an unaffected father. This family expands our knowledge about the phenotypic spectrum associated with pathogenic mutation in the <jats:italic>NRG1<\/jats:italic> gene with intrafamilial variability and the likely reduced penetrance for the phenotypic expression.<\/jats:p>","DOI":"10.1002\/ajmg.a.62069","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T00:24:38Z","timestamp":1610670278000},"page":"1211-1215","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic spectrum associated with pathogenic mutation in the <scp>NRG1<\/scp> gene in Acadian family"],"prefix":"10.1002","volume":"185","author":[{"given":"Liane","family":"Bourcier","sequence":"first","affiliation":[{"name":"Centre de Formation M\u00e9dicale du Nouveau\u2010Brunswick Universit\u00e9 de Sherbrooke  Moncton Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7832-6196","authenticated-orcid":false,"given":"Nicolas","family":"Crapoulet","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique mol\u00e9culaire R\u00e9seau de sant\u00e9 Vitalit\u00e9  Moncton Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodney J.","family":"Ouellette","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique mol\u00e9culaire R\u00e9seau de sant\u00e9 Vitalit\u00e9  Moncton Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Mallet","sequence":"additional","affiliation":[{"name":"Bureau d'appui \u00e0 la recherche r\u00e9gional R\u00e9seau de sant\u00e9 Vitalit\u00e9  Moncton Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3854-2871","authenticated-orcid":false,"given":"Mouna","family":"Ben Amor","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine g\u00e9n\u00e9tique, R\u00e9seau de sant\u00e9 Vitalit\u00e9  Moncton Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053959"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.729"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.26149"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1963.tb01983.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-37107-6_1"},{"key":"e_1_2_9_7_1","unstructured":"BrooksA.S. 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