{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:14:11Z","timestamp":1790903651559,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X\u2010linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X\u2010linked skeletal dysplasias known as oto\u2010palato\u2010digital syndrome spectrum disorders that also include OPD2, Melnick\u2013Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Recently, it has been demonstrated that mutations in the gene encoding the cytoskeletal protein Filamin A (<jats:italic>FLNA<\/jats:italic>) are responsible for this group of clinically overlapping human syndromes. We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel <jats:italic>FLNA<\/jats:italic> point mutation resulting in an Asp203Tyr substitution in the actin\u2010binding domain of the protein. X\u2010inactivation analyses demonstrated an extremely skewed pattern towards her maternal chromosome. Our results add to the molecular spectrum of the oto\u2010palato\u2010digital related syndromes and contribute to the delineation of phenotype\u2010genotype correlation in this group of X\u2010linked skeletal disorders. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30792","type":"journal-article","created":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T21:17:59Z","timestamp":1118092679000},"page":"190-193","source":"Crossref","is-referenced-by-count":20,"title":["A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation"],"prefix":"10.1002","volume":"136A","author":[{"given":"Alberto","family":"Hidalgo\u2010Bravo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ericka 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