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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

OMIM: 600791
Inheritance: Autosomal recessive
Classification: Diseases of the ear and mastoid process

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

SLC26A4 || c.1540C>A

Gene/Locus:	SLC26A4
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

References

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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

References