{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T10:30:53Z","timestamp":1769164253069,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,4,21]],"date-time":"2018-04-21T00:00:00Z","timestamp":1524268800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>We report two unrelated boys with frontonasal dysplasias type\u20102 (FND\u20102) who shared an identical novel homozygous <jats:italic>ALX4<\/jats:italic> mutation c.291delG (p.Q98Sfs*83). Both patients presented with a large skull defect but one had bilateral parietal meningocele\u2010like cysts that lie along with the bony defect and increased in size with age. Scalp alopecia, hypertelorism, and clefted alae nasi were also detected in both of them. Furthermore, impalpable gonads were noted, being unilateral in one and bilateral in the other. Neuroimaging showed small dysplastic occipital lobes with dysgyria and midline subarachnoid cyst. Additional dysplastic corpus callosum and small cerebellar vermis were observed in one patient. Parietal foramina were noted in the parents of one patient. Our findings highlight the dosage effect of <jats:italic>ALX4<\/jats:italic> and underscore the challenges of prenatal genetic counseling. Further, the indirect role of <jats:italic>ALX4<\/jats:italic> in the development of the occipital lobe and posterior fossa is discussed.<\/jats:p>","DOI":"10.1002\/ajmg.a.38655","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T04:10:11Z","timestamp":1524370211000},"page":"1190-1194","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a novel homozygous <i>ALX4<\/i> mutation in two unrelated patients with frontonasal dysplasia type\u20102"],"prefix":"10.1002","volume":"176","author":[{"given":"Mona","family":"El\u2010Ruby","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alaa","family":"El\u2010Din Fayez","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics and Enzymology Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara H.","family":"El\u2010Dessouky","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Fetal Medicine Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona S.","family":"Aglan","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inas","family":"Mazen","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nora","family":"Ismail","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics and Enzymology Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan H.","family":"Afifi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha M.","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mostafa I.","family":"Mostafa","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mennat I.","family":"Mehrez","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasmin","family":"Khalil","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khaled R.","family":"Gaber","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Fetal Medicine Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada M. H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,4,21]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Alanay Y. Uz E. Eda Utine G. Tuncbilek G. Boduroglu K. &Akarsu N. A.(October 22\u201325 2012). Disruption of OAR domain in ALX4 results in autosomal recessive severe frontonasal dysplasia with facial hypertrichosis. Abstract book:15th Manchester Dysmorphology Conference University of Manchester. 12p."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35762"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1972.37.4.0487"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36008"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34390"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp391"},{"key":"e_1_2_6_8_1","first-page":"350","article-title":"Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation","volume":"22","author":"Matsumaru D.","year":"2014","journal-title":"Genetics"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/83703"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12595"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.5.1175"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1962.19.2.0153"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4826"},{"key":"e_1_2_6_14_1","first-page":"1836","article-title":"Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation","volume":"25","author":"Valente M.","year":"2004","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/321218"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.916"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38655","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38655","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38655","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38655","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T05:40:45Z","timestamp":1693892445000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,21]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1002\/ajmg.a.38655"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38655","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,21]]},"assertion":[{"value":"2017-10-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-02-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}