Document Detail


A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
MedLine Citation:
PMID:  15940695     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked 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-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Recently, it has been demonstrated that mutations in the gene encoding the cytoskeletal protein Filamin A (FLNA) 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 FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. X-inactivation analyses demonstrated an extremely skewed pattern towards her maternal chromosome. Our results add to the molecular spectrum of the oto-palato-digital related syndromes and contribute to the delineation of phenotype-genotype correlation in this group of X-linked skeletal disorders.
Authors:
Alberto Hidalgo-Bravo; Ericka N Pompa-Mera; Susana Kofman-Alfaro; Cesar R Gonzalez-Bonilla; Juan Carlos Zenteno
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  136     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-06-29     Completed Date:  2005-09-14     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  190-3     Citation Subset:  IM    
Copyright Information:
Copyright 2005 Wiley-Liss, Inc.
Affiliation:
Department of Genetics, Hospital General de Mexico-Facultad de Medicina, UNAM, Mexico City.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Adult
Base Sequence
Bone Diseases, Developmental / pathology
Chromosomes, Human, X / genetics*
Cleft Palate / pathology
Contractile Proteins / genetics*
Craniofacial Abnormalities
DNA / chemistry,  genetics
DNA Mutational Analysis
Dosage Compensation, Genetic*
Female
Growth Disorders / pathology
Humans
Microfilament Proteins / genetics*
Mutation, Missense*
Syndactyly / pathology
Syndrome
Chemical
Reg. No./Substance:
0/Contractile Proteins; 0/Microfilament Proteins; 0/filamins; 9007-49-2/DNA

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