{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:13:02Z","timestamp":1788541982460,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Achaete\u2010Scute Family basic\u2010helix\u2013loop\u2013helix (bHLH) Transcription Factor 1 (\n                    <jats:italic>ASCL1<\/jats:italic>\n                    ) is a proneural transcription factor involved in neuron development in the central and peripheral nervous system. While initially suspected to contribute to congenital central hypoventilation syndrome\u20101 (CCHS) with or without Hirschsprung disease (HSCR) in three individuals, its implication was ruled out by the presence, in one of the individuals, of a Paired\u2010like homeobox 2B (\n                    <jats:italic>PHOX2B<\/jats:italic>\n                    ) heterozygous polyalanine expansion variant, known to cause CCHS. We report two additional unrelated individuals sharing the same sporadic\n                    <jats:italic>ASCL1<\/jats:italic>\n                    p.(Glu127Lys) missense variant in the bHLH domain and a common phenotype with short\u2010segment HSCR, signs of dysautonomia, and developmental delay. One has also mild CCHS without polyalanine expansion in\n                    <jats:italic>PHOX2B<\/jats:italic>\n                    , compatible with the diagnosis of Haddad syndrome. Furthermore, missense variants with homologous position in the same bHLH domain in other genes are known to cause human diseases. The description of additional individuals carrying the same variant and similar phenotype, as well as targeted functional studies, would be interesting to further evaluate the role of\n                    <jats:italic>ASCL1<\/jats:italic>\n                    in neurocristopathies.\n                  <\/jats:p>","DOI":"10.1111\/cge.14485","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T23:45:36Z","timestamp":1706571936000},"page":"555-560","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Further description of two individuals with de novo\n                    <scp>p.(Glu127Lys)<\/scp>\n                    missense variant in the\n                    <scp>\n                      <i>ASCL1<\/i>\n                    <\/scp>\n                    gene"],"prefix":"10.1111","volume":"105","author":[{"given":"Marl\u00e8ne","family":"Malbos","sequence":"first","affiliation":[{"name":"CRMRs \u201cAnomalies du D\u00e9veloppement et syndromes malformatifs\u201d et \u201cD\u00e9ficiences Intellectuelles de causes rares\u201d Centre de G\u00e9n\u00e9tique, CHU Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Gautier","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Grenoble Alpes, Inserm\u2010U1209, CNRS\u2010UMR5309 Institut pour l'Avanc\u00e9e des Biosciences  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boespflug\u2010Tanguy","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Cit\u00e9, INSERM\u2010UMR1141, CRMR \u00ab Leucodystrophies \u00bb Neurologie P\u00e9diatrique et Maladies m\u00e9taboliques, H\u00f4pital Robert\u2010Debr\u00e9, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Busby","sequence":"additional","affiliation":[{"name":"Rare &amp; Inherited Disease Laboratory, London North Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tashunka","family":"Taylor\u2010Miller","sequence":"additional","affiliation":[{"name":"Rare &amp; Inherited Disease Laboratory, London North Genomic Laboratory Hub Great Ormond Street Hospital for Children NHS Foundation Trust  London 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