The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
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.
Cho
Mi Ae
MA
Department of Internal Medicine & Endocrine Research Institute, College of Medicine, Yonsei University, Seoul, Korea.
Jeong
Su Jin
SJ
Eom
Sang-Mi
SM
Park
Hyun-Young
HY
Park
Hyun-Yung
HY
Lee
Young Joo
YJ
Park
Se Eun
SE
Park
So Young
SY
Rhee
Yumie
Y
Kang
Eun Seok
ES
Kang
Eun Soek
ES
Ahn
Chul Woo
CW
Cha
Bong Soo
BS
Lee
Eun Jig
EJ
Kim
Kyung Rae
KR
Lee
Hyun Chul
HC
Lim
Sung-Kil
SK
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
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters