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69 Possible Causes for Mutation in the Tight Junction Protein 2 Gene, Postlingual Progressive Sensorineural Hearing Loss

  • Autosomal Dominant Deafness 56

    X-linked syndromic hearing impairment Alport syndrome Alport syndrome is characterized by progressive postlingual sensorineural hearing loss of varying severity, progressive[nature.com] […] human genes that are mutated encode for a wide variety of proteins connexins (gap junction proteins; esp.[d.umn.edu] X-linked Nonsyndromic Hearing Impairment: Genes and their Clinical Manifestations Gene Locus Onset Type / Degree Frequencies PRPS1 DFNX1 Postlingual Progressive sensorineural[ncbi.nlm.nih.gov]

  • Meniere's Disease

    JOURNAL ARTICLES A Gene for Non-Syndromic Autosomal Dominant Progressive Postlingual Sensorineural Hearing Loss Maps to Chromosome 14Q12-13. E.N.[rarediseases.org]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Familial Hypercholanemia

    In 6 families, affected individuals were homozygous for a missense mutation in the gene encoding tight junction protein-2 (TJP2; {607709.0001}).[bio2rdf.org] In 2 families, affected individuals were homozygous for an M76V mutation in the BAAT gene ({602938.0001}).[bio2rdf.org]

    Missing: Postlingual Progressive Sensorineural Hearing Loss
  • Congenital Deafness

    X-linked syndromic hearing impairment Alport syndrome Alport syndrome is characterized by progressive postlingual sensorineural hearing loss of varying severity, progressive[nature.com] Mohr-Tranebjaerg syndrome (DFN-1) Mohr-Tranebjaerg syndrome (DFN-1) is an X-linked recessive syndromic hearing loss characterized by postlingual sensorineural deafness in[dizziness-and-balance.com] To prevent metabolic coma, diet and treatment should be initiated as soon as possible. 48, 49 Refsum disease Refsum disease is a postlingual severe progressive sensorineural[nature.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Isolated Congenital Sclerocornea

    It is a congenital hereditary endothelial dystrophy (CHED) joined with progressive, postlingual sensorineural hearing loss.[emedicine.medscape.com] , postlingual sensorineural hearing loss.[ojrd.biomedcentral.com] […] elevated IOP normalizes. [5] Harboyan syndrome Harboyan syndrome manifests with diffuse bilateral corneal edema and occurs with severe corneal clouding, blurred vision, visual loss[emedicine.medscape.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Deafness

    X-linked Nonsyndromic Hearing Impairment: Genes and their Clinical Manifestations Gene Locus Onset Type / Degree Frequencies PRPS1 DFNX1 Postlingual Progressive sensorineural[ncbi.nlm.nih.gov] X-linked nonsyndromic hearing loss can be either pre- or postlingual; one disorder, DFNX3, has mixed hearing loss. Table 6.[ncbi.nlm.nih.gov] severe to profound All POU3F4 DFNX2 Prelingual Progressive, mixed / variable, but progresses to profound All SMPX DFNX4 Postlingual Progressive sensorineural / mild to[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Deafness, Autosomal Dominant 23

    Results This family exhibits postlingual, progressive, symmetrical, bilateral, non-syndromic sensorineural hearing loss.[bmcmedgenet.biomedcentral.com] , progressive, non-syndromic sensorineural hearing loss (Fig. 1 ).[bmcmedgenet.biomedcentral.com] Methods A six-generation Chinese family from Hebei Province with autosomal dominantly inherited, sensorineural, postlingual, progressive hearing loss was enrolled in this[bmcmedgenet.biomedcentral.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Autosomal Dominant Deafness 64

    Results This family exhibits postlingual, progressive, symmetrical, bilateral, non-syndromic sensorineural hearing loss.[link.springer.com] The gene responsible for DFNB13 (uncloned at present) is reported to cause severe progressive sensorineural hearing loss.[academic.oup.com] , progressive, non-syndromic sensorineural hearing loss (Fig. 1 ).[link.springer.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Hereditary Corneal Dystrophy

    , postlingual sensorineural hearing loss.[ojrd.biomedcentral.com] hearing loss.[journals.lww.com] Audiometry Tonal audiometry in patients with Harboyan syndrome shows sensorineural hearing loss.[ojrd.biomedcentral.com]

    Missing: Mutation in the Tight Junction Protein 2 Gene
  • Autosomal Dominant Deafness 9

    X-linked syndromic hearing impairment Alport syndrome Alport syndrome is characterized by progressive postlingual sensorineural hearing loss of varying severity, progressive[nature.com] Then, we identified a novel EYA4 mutation in exon 8, c.511G C; p.G171R, which segregated with postlingual and progressive autosomal dominant sensorineural hearing loss (SNHL[journals.plos.org] X-linked Nonsyndromic Hearing Impairment: Genes and their Clinical Manifestations Gene Locus Onset Type / Degree Frequencies PRPS1 DFNX1 Postlingual Progressive sensorineural[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tight Junction Protein 2 Gene

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