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Last update

21/6/2017

Gene: solute carrier family 26 (anion exchanger), member 4; SLC26A4

Gene Symbol: SLC26A4
OMIM: 605646
Chromosome location: 7q22.3

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Pendred syndrome || c.1334T>G

Phenotype:	Pendred syndrome
Dna Change:	c.1334T>G
Protein Change:	p.Leu445Trp
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 11
Transcript:	NM_000441.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct || c.1540C>A

Phenotype:	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Dna Change:	c.1540C>A
Protein Change:	p.Gln514Lys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:	NM_000441.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	17% of mutated alleles (5 patients/127patients)	NA	Pera A et al., 2008Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C, . A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.. Eur. J. Hum. Genet.. 2008; 16(8):888-96

Pendred syndrome || c.279delT

Phenotype:	Pendred syndrome
Dna Change:	c.279delT
Protein Change:	p.Ser93ArgfsX4
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 3
Transcript:	NM_000441.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C, A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.Eur. J. Hum. Genet.. 2008; 16(8):888-96

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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: solute carrier family 26 (anion exchanger), member 4; SLC26A4

References