{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:51:03Z","timestamp":1784544663551,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T00:00:00Z","timestamp":1643241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Previously, mutations in the <jats:italic>AMMECR1<\/jats:italic> gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and\/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In this report, we present three female relatives of a male fetus with an intragenic deletion in this X\u2010linked gene. All three women reported hearing loss and one was born with a soft cleft palate and hip dysplasia. The audiograms showed mild to moderate SNHL with a variable pattern of the affected frequencies. Immunohistochemical analysis of fetal cochlea was performed confirming the expression of AMMECR1 in the human inner ear. Since hearing loss, cleft palate and congenital hip dysplasia were reported before in male <jats:italic>AMMECR1<\/jats:italic> point mutation carriers and <jats:italic>AMMECR1<\/jats:italic> is expressed in fetal inner ear, we suggest that female carriers may display a partial phenotype in this X\u2010linked condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.62669","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T11:38:01Z","timestamp":1643283481000},"page":"1578-1582","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of <scp><i>AMMECR1<\/i><\/scp>"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9876-744X","authenticated-orcid":false,"given":"Saskia","family":"Koene","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Knijnenburg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariette J. V.","family":"Hoffer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fleur","family":"Zwanenburg","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique C.","family":"Haak","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Locher","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head&amp;Neck surgery Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward S. A.","family":"van Beelen","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head&amp;Neck surgery Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijs W. E.","family":"Santen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liselotte J. C.","family":"Rotteveel","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head&amp;Neck surgery Leiden University Medical Centre  Leiden Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104100"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.01.001"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu564"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.4.273"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.10.064"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050909"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1749-8104-8-20"},{"key":"e_1_2_9_9_1","first-page":"xx","article-title":"Clinical features in patients with Xq23 microdeletion: A case report and literature review (Xq23 microdeletions)","author":"Lu Q.","year":"2021","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23373"},{"issue":"2","key":"e_1_2_9_11_1","first-page":"99","article-title":"Fragile X syndrome in females\u2014A familial case report and review of the literature","volume":"20","author":"Stembalska A.","year":"2016","journal-title":"Developmental Period Medicine"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22786"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000015533"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5666"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62669","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62669","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62669","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T09:27:21Z","timestamp":1692955641000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,27]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/ajmg.a.62669"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62669","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,27]]},"assertion":[{"value":"2021-08-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}