ArticleAmerican journal of human genetics2004
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 64 citations in OpenAlex.
- Characterization of a Splice Variant inNeurology. Genetics · 2026Article
- ULK phosphorylation of STX17 controls autophagosome maturation via FLNA.The Journal of cell biology · 2023Article
- Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.BMC pediatrics · 2023Review
- Deep exploration of aJournal of medical genetics · 2022Article
- Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- NudC L279P Mutation Destabilizes Filamin A by Inhibiting the Hsp90 Chaperoning Pathway and Suppresses Cell Migration.Frontiers in cell and developmental biology · 2021Article
- A review of filamin A mutations and associated interstitial lung disease.European journal of pediatrics · 2019Review
- Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.The Journal of biological chemistry · 2017Article
- Article
- Filamin structure, function and mechanics: are altered filamin-mediated force responses associated with human disease?Biophysical reviews · 2011Review
- Allelic diversity in human developmental neurogenetics: insights into biology and disease.Neuron · 2010Review
- Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.American journal of human genetics · 2010Article
- Molecular basis of filamin A-FilGAP interaction and its impairment in congenital disorders associated with filamin A mutations.PloS one · 2009Article
- Expression, crystallization and preliminary crystallographic data analysis of filamin A repeats 14-16.Acta crystallographica. Section F, Structural biology and crystallization communications · 2007Article
- MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis.Annals of the rheumatic diseases · 2007Article
- Article
- A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.Journal of medical genetics · 2006Article
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8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belonging to the oto-palato-digital (OPD) spectrum, are caused by FLNA mutations. They are considered mutually exclusive because of the different presumed effects of the respective FLNA gene mutations, leading to loss of function (PVNH) and gain of function (OPD), respectively. We describe here the first patient manifesting PVNH in combination with frontometaphyseal dysplasia, a skeletal dysplasia of the OPD-spectrum. A novel de novo mutation, 7315C-->A in exon 45 of the FLNA gene, was identified. It leads to two aberrant transcripts, one full-length transcript with the point mutation causing a substitution of a highly conserved leucine residue (L2439M) and a second shortened transcript lacking 21 bp due to the creation of an ectopic splice donor site in exon 45. We propose that the dual phenotype is caused by two functionally different, aberrant filamin A proteins and therefore represents an exceptional model case of allelic gain-of-function and loss-of-function phenotypes due to a single mutational event.
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