title: The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
abstract: Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and goiter, with a positive finding in the perchlorate discharge test. Pendred syndrome results from various mutations in the PDS/SLC26A4 gene that cause production of an abnormal pendrin protein. More than 90 mutations in the PDS/SLC26A4 gene have been reported throughout the world. A recent study of 26 Korean patients with a relatively high frequency (65%) of a mutated PDS/SLC26A4 gene exhibited nonsyndromic deafness and an enlarged vestibular aqueduct. We report two patients with characteristics of typical Pendred syndrome, a 26-yr-old female and a 61-yr-old male, who were both homozygous for a previously reported missense mutation, H723R (Histidine 723Arginine) in the PDS/SLC26A4 gene.
authors.affiliation: Department of Internal Medicine & Endocrine Research Institute, College of Medicine, Yonsei University, Seoul, Korea.
authors.forename: Mi Ae
authors.initials: MA
authors.lastname: Cho
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Jeong
authors.forename: Sang-Mi
authors.initials: SM
authors.lastname: Eom
authors.forename: Hyun-Young
authors.initials: HY
authors.lastname: Park
authors.forename: Hyun-Yung
authors.initials: HY
authors.lastname: Park
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Lee
authors.forename: Se Eun
authors.initials: SE
authors.lastname: Park
authors.forename: So Young
authors.initials: SY
authors.lastname: Park
authors.forename: Yumie
authors.initials: Y
authors.lastname: Rhee
authors.forename: Eun Seok
authors.initials: ES
authors.lastname: Kang
authors.forename: Eun Soek
authors.initials: ES
authors.lastname: Kang
authors.forename: Chul Woo
authors.initials: CW
authors.lastname: Ahn
authors.forename: Bong Soo
authors.initials: BS
authors.lastname: Cha
authors.forename: Eun Jig
authors.initials: EJ
authors.lastname: Lee
authors.forename: Kyung Rae
authors.initials: KR
authors.lastname: Kim
authors.forename: Hyun Chul
authors.initials: HC
authors.lastname: Lee
authors.forename: Sung-Kil
authors.initials: SK
authors.lastname: Lim
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006042:Goiter / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000076988:Sulfate Transporters; D013577:Syndrome; D014463:Ultrasonography; D014723:Vestibular Aqueduct / Q000000981:diagnostic imaging
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters