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8 Possible Causes for Mutation in the Formin 2 Gene

  • Focal Segmental Glomerulosclerosis

    Mutations in the inverted formin-2 (INF2) gene were recently identified in patients with autosomal dominant intermediate Charcot-Marie-Tooth (DI-CMT) disease and focal segmental[ncbi.nlm.nih.gov] Recently, mutations in the inverted formin 2 (INF2) gene have been indentified in patients with dominant inherited intermediate Charcot-Marie-Tooth neuropathy (DI-CMT) with[ncbi.nlm.nih.gov] Here, we identified a novel p.L132P INF2 mutation in a Korean family with DI-CMT and FSGS by whole-exome sequencing.[ncbi.nlm.nih.gov]

  • Paroxysmal Nocturnal Hemoglobinuria

    Concomitant mutations in complement genes have been reported.[doi.org] Inverted formin 2 Mutations in inverted formin 2 ( INF2 ) have recently been reported in families with TMAs which was non-responsive to eculizumab [ 49 ].[doi.org] Genetic pleiotropy is seen: DGKE mutations have also been associated with mesangioproliferative glomerulonephritis (MPGN) [ 51 ].[doi.org]

  • Charcot Marie Tooth Disease

    Mutations in the inverted formin-2 (INF2) gene were recently identified in patients with autosomal dominant intermediate Charcot-Marie-Tooth (DI-CMT) disease and focal segmental[ncbi.nlm.nih.gov] Here, we identified a novel p.L132P INF2 mutation in a Korean family with DI-CMT and FSGS by whole-exome sequencing.[ncbi.nlm.nih.gov]

  • Thrombotic Microangiopathy

    Using whole-exome sequencing, we identified a mutation in the inverted formin 2 gene ( INF2 ) in the mutational hotspot for FSGS.[ncbi.nlm.nih.gov]

  • Thoracolaryngopelvic Dysplasia

    Families with both mild and severe forms of ATD mapped to 15q13, but mutation analysis of 2 positional candidate genes, gremlin (GREM1; {603054}) and formin (FMN1; {136535[bio2rdf.org] }), did not show pathogenic mutations.[bio2rdf.org] By homozygosity mapping of 2 sibs, born of consanguineous parents, with a phenotype overlapping ATD and Joubert syndrome ({213300}), {24:Lehman et al. (2010)} found a shared[bio2rdf.org]

  • Autosomal Recessive Steroid-Resistant Nephrotic Syndrome

    Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010; 42: 2-6. Al-Hamed MH, Al-Sabban E, Al-Mojalli H, et al.[alliedacademies.org]

  • Autosomal Dominant Nonsyndromic Auditory Neuropathy

    A mutation in DIAPH1 underlies DFNA1 , autosomal dominant nonsyndromic sensorineural hearing loss ( 2 ), whereas mutations in the X-linked DIAPH2 cause premature ovarian failure[pnas.org] These genes encode diaphanous -related formin (DRF) proteins, actin nucleation factors involved in maintenance of cell polarity and cell shape, intracellular transport, and[pnas.org]

  • Nephrotic Syndrome Type 9

    Mutations in the WT1 gene, encoding the Wilms' tumor 1 protein, which typically lead to Denys-Drash syndrome or Frasier syndrome, can also cause isolated SRNS 52).[ncbi.nlm.nih.gov] Syndromic forms of SRNS, which are far less frequent, may be a result of mutations in genes encoding transcriptional factors ( WT1, LMX1B ), GBM components ( LAMB2, ITGB4[ncbi.nlm.nih.gov] 2 ( INF2 ) and nonmuscle myosin IIA ( MYH9 ) 14, 15, 17, 51).[ncbi.nlm.nih.gov]

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