RGD Reference Report - Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. - Rat Genome Database

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Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Authors: Robertson, SP  Jenkins, ZA  Morgan, T  Ades, L  Aftimos, S  Boute, O  Fiskerstrand, T  Garcia-Minaur, S  Grix, A  Green, A  Der Kaloustian, V  Lewkonia, R  McInnes, B  Van Haelst, MM  Mancini, G  Illes, T  Mortier, G  Newbury-Ecob, R  Nicholson, L  Scott, CI  Ochman, K  Brozek, I  Shears, DJ  Superti-Furga, A  Suri, M  Whiteford, M  Wilkie, AO  Krakow, D 
Citation: Robertson SP, etal., Am J Med Genet A. 2006 Aug 15;140(16):1726-36.
RGD ID: 11063279
Pubmed: PMID:16835913   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.31322   (Journal Full-text)

Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. Extraskeletal features include tracheobronchial, cardiac, and urological malformations. A proportion of individuals have missense mutations or small deletions in the X-linked gene, FLNA. We report here our experience with comprehensive screening of the FLNA gene in a group of 23 unrelated probands (11 familial instances, 12 simplex cases; total affected individuals 32) with FMD. We found missense mutations leading to substitutions in the actin-binding domain and within filamin repeats 9, 10, 14, 16, 22, and 23 of filamin A in 13/23 (57%) of individuals in this cohort. Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death. Although no phenotypic feature consistently discriminates between females with FMD who are heterozygous for FLNA mutations and those in whom no FLNA mutation can be identified, there is a difference in the degree of skewing of X-inactivation between these two groups. This observation suggests that locus heterogeneity may exist for this disorder.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
frontometaphyseal dysplasia 1  IAGP 11063279DNA:missense mutations and deletions:cds:multiple (human)RGD 
frontometaphyseal dysplasia 1  ISOFLNA (Homo sapiens)11063279; 11063279DNA:missense mutations and deletions:cds:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hypertelorism  IAGP 11063279DNA:missense mutations and deletions:cds:multiple (human)RGD 
Prominent supraorbital ridges  IAGP 11063279DNA:missense mutations and deletions:cds:multipleRGD 
Sclerosis of skull base  IAGP 11063279DNA:missense mutations and deletions:cds:multiple (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Flna  (filamin A)

Genes (Mus musculus)
Flna  (filamin, alpha)

Genes (Homo sapiens)
FLNA  (filamin A)


Additional Information