{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:05Z","timestamp":1772160065307,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12\u2010year\u2010old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis\/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio\u2010exome sequencing identified a homozygous loss of function variant in the\n                    <jats:italic>NEUROG1<\/jats:italic>\n                    gene (NM_006161.2: c.202G\u2009&gt;\u2009T, p.Glu68*).\n                    <jats:italic>NEUROG1<\/jats:italic>\n                    is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous\n                    <jats:italic>NEUROG1<\/jats:italic>\n                    missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.\n                  <\/jats:p>","DOI":"10.1111\/cge.13922","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T08:36:18Z","timestamp":1610699778000},"page":"588-593","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Adding evidence to the role of\n                    <scp>\n                      <i>NEUROG1<\/i>\n                    <\/scp>\n                    in congenital cranial dysinnervation disorders"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8257-5067","authenticated-orcid":false,"given":"Juliette","family":"Dupont","sequence":"first","affiliation":[{"name":"Genetics Department Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Pedro","family":"Vieira","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital de Dona Estef\u00e2nia, Centro Hospitalar Universit\u00e1rio de Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Lisa Taylor","family":"Tavares","sequence":"additional","affiliation":[{"name":"East Anglian Medical Genetics Service Cambridge University Hospitals NHS Foundation Trust  Cambridge UK"},{"name":"Department of Health Genomics England, Queen Mary University of London  Charterhouse Square London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla Ribeiro","family":"Concei\u00e7\u00e3o","sequence":"additional","affiliation":[{"name":"Neuroradiology Department Hospital de Dona Estef\u00e2nia, Centro Hospitalar Universit\u00e1rio de Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suliman","family":"Khan","sequence":"additional","affiliation":[{"name":"Research Data Analysis CENTOGENE AG  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9544-1877","authenticated-orcid":false,"given":"Aida Maria","family":"Bertoli\u2010Avella","sequence":"additional","affiliation":[{"name":"Research Data Analysis CENTOGENE AG  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Berta","family":"Sousa","sequence":"additional","affiliation":[{"name":"Genetics Department Hospital de Santa Maria, Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"},{"name":"Laborat\u00f3rio de Imunologia B\u00e1sica Faculdade de Medicina da Universidade de Lisboa  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00043-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22785"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00224-0"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1744-9081-9-7"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1575-0"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.146"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0016-6"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.262"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8199"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1156121"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.023"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/343821"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2979"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22574"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s101620010017"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80988-5"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.157719"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.587699"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvp080"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6364394"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq207"}],"container-title":["Clinical 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