OMIM: 274600Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SLC26A4 |
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| Dna Change: | c.1334T>G |
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| Protein Change: | p.Leu445Trp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 11 |
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| Transcript: | NM_000441.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | Southern | 7 families/8 families | NA | Rebeh IB et al., 2010Rebeh IB, Yoshimi N, Hadj-Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S, Miyazaki H, . Two missense mutations in SLC26A4 gene: a molecular and functional study.. Clin. Genet.. 2010; 78(1):74-80 |
| Gene/Locus: | SLC26A4 |
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| Dna Change: | c.279delT |
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| Protein Change: | p.Ser93ArgfsX4 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 3 |
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| Transcript: | NM_000441.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Northwest (Galicia) | 2 families | NA | Palos F et al., 2008Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J, . Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.. J. Clin. Endocrinol. Metab.. 2008; 93(1):267-77 |
References
Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J, Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.J. Clin. Endocrinol. Metab.. 2008; 93(1):267-77
Rebeh IB, Yoshimi N, Hadj-Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S, Miyazaki H, Two missense mutations in SLC26A4 gene: a molecular and functional study.Clin. Genet.. 2010; 78(1):74-80