The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients
Authors
Mi Ae Cho ; Su Jin Jeong ; Sang-Mi Eom ; Hyun-Yung Park ; Young Joo Lee ; Se Eun Park ; So Young Park ; Yumie Rhee ; Eun Soek Kang ; Chul Woo Ahn ; Bong Soo Cha ; Eun Jig Lee ; Kyung Rae Kim ; Hyun Chul Lee ; Sung-Kil Lim
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 non-syndromic 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 723 Arginine) in the PDS/SLC26A4 gene.