Gene: FLNA

Alternate names for this Gene: ABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD

Gene Summary: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: filamin A

Type of Gene: protein-coding

rs267606815 in FLNA gene and Cardiac valvular dysplasia, X-linked PMID 17190868 2007 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

rs1557179659 in FLNA gene and Dysmorphic features PMID 17190868 2007 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

PMID 10449643 1999 Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 11532987 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

PMID 16926860 2007 Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

PMID 15917206 2005 Filamin A: phenotypic diversity.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 17632775 2007 Filamin A mutation is one cause of FG syndrome.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 28411558 2017 Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PMID 27739212 2017 Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 23037936 2013 Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 20598277 2010 Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

rs797045044 in FLNA gene and Ehlers-Danlos syndrome type 5 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs137853319 in FLNA gene and FG SYNDROME 2 PMID 17632775 2007 Filamin A mutation is one cause of FG syndrome.

rs137853312 in FLNA gene and FRONTOMETAPHYSEAL DYSPLASIA 1 PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 16596676 2006 In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 16596676 2006 We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1.

PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

rs137853312 in FLNA gene and Frontometaphyseal dysplasia PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 15194946 2004 Molecular pathology of filamin A: diverse phenotypes, many functions.

PMID 17264970 2007 A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 20730588 2011 Combined cardiological and neurological abnormalities due to filamin A gene mutation.

PMID 16684786 2006 Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

rs1557175424 in FLNA gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs137853312 in FLNA gene and Melnick-Needles Syndrome PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 17264970 2007 A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 15194946 2004 Molecular pathology of filamin A: diverse phenotypes, many functions.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 16684786 2006 Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

PMID 20730588 2011 Combined cardiological and neurological abnormalities due to filamin A gene mutation.

PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

rs1557179659 in FLNA gene and Multiple congenital anomalies PMID 17632775 2007 Filamin A mutation is one cause of FG syndrome.

PMID 10449643 1999 Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

PMID 20598277 2010 Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 17190868 2007 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 23037936 2013 Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

PMID 28411558 2017 Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 15917206 2005 Filamin A: phenotypic diversity.

PMID 16926860 2007 Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

PMID 27739212 2017 Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 11532987 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

rs137853312 in FLNA gene and OTOPALATODIGITAL SYNDROME, TYPE II PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

PMID 17264970 2007 A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

PMID 15194946 2004 Molecular pathology of filamin A: diverse phenotypes, many functions.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 17431908 2007 Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 20730588 2011 Combined cardiological and neurological abnormalities due to filamin A gene mutation.

PMID 16684786 2006 Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

PMID 17431908 2007 Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

rs137853314 in FLNA gene and Oto-Palato-digital syndrome type 1 PMID 15940695 2005 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.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 15940695 2005 A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

rs137853311 in FLNA gene and Periventricular Heterotopia, X-Linked PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 11532987 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

PMID 15249610 2004 Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

PMID 15668422 2005 Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

PMID 16299064 2006 A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

PMID 15994863 2006 Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

PMID 15194946 2004 Molecular pathology of filamin A: diverse phenotypes, many functions.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 17264970 2007 A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 20730588 2011 Combined cardiological and neurological abnormalities due to filamin A gene mutation.

PMID 16684786 2006 Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.