Phenotype: Pendred syndrome


OMIM: 274600
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

SLC26A4 || c.1334T>G

Gene/Locus:    SLC26A4
Dna Change:    c.1334T>G
Protein Change:    p.Leu445Trp
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 11
Transcript:    NM_000441.1

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNASouthern7 families/8 familiesNARebeh 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

SLC26A4 || c.279delT

Gene/Locus:    SLC26A4
Dna Change:    c.279delT
Protein Change:    p.Ser93ArgfsX4
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 3
Transcript:    NM_000441.1

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANorthwest (Galicia)2 familiesNAPalos 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