{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T15:23:14Z","timestamp":1767626594129,"version":"3.37.3"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"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":[[2018,4]]},"abstract":"<jats:p>Melnick\u2010Needles syndrome (MNS; MIM 309350) is an X\u2010linked skeletal dysplasia caused by mutations in <jats:italic>FLNA<\/jats:italic>. Females with the condition present with characteristic facial features, short stature, skeletal anomalies, including poorly modeled and sclerotic bones, and structural abnormalities such as cardiac and urological defects. Previously males were thought to present with either a mild phenotype compatible with life or a severe lethal presentation depending on the maternal phenotype. The discovery of a limited number of mutations in <jats:italic>FLNA<\/jats:italic> as the cause of the condition has clarified the molecular basis of the disorder, but only a very small number of severely affected males have been reported with MNS. Furthermore, no mildly affected males have been described with a molecular confirmation of the condition. In this report, we describe the clinical and molecular findings of a mildly affected mother with MNS and her severely affected son. They shared a well\u2010documented disease\u2010causing variant in <jats:italic>FLNA<\/jats:italic>, p.(Ala1188Thr), one of two highly recurrent mutations leading to the disorder. This is only the fourth report of a male with perinatal lethal MNS and a molecular confirmation; it is the first description of this specific mutation in a male.<\/jats:p>","DOI":"10.1002\/ajmg.a.38651","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T03:36:53Z","timestamp":1522985813000},"page":"980-984","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A recurrent mutation causing Melnick\u2010Needles syndrome in females confers a severe, lethal phenotype in males"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9638-2071","authenticated-orcid":false,"given":"Careni","family":"Spencer","sequence":"first","affiliation":[{"name":"Division of Human Genetics, School of Pathology, Faculty of Health Sciences University of Witwatersrand and National Health Laboratory Service Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hendrik","family":"Lombaard","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Health Sciences, Rahima Moosa Mother and Child Hospital University of Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Wise","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Health Sciences, Rahima Moosa Mother and Child Hospital University of Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Krause","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, School of Pathology, Faculty of Health Sciences University of Witwatersrand and National Health Laboratory Service Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen P.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health, Dunedin School of Medicine University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,3,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320184"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270116"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.37"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12679"},{"key":"e_1_2_7_6_1","unstructured":"Orphanet Encyclopaedia(May2015). Orphanet:Melnick Needles syndrome. 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