Ontology highlight
ABSTRACT:
SUBMITTER: Kim HJ
PROVIDER: S-EPMC1950833 | biostudies-literature | 2007 Sep
REPOSITORIES: biostudies-literature
Kim Hee-Jin HJ Sohn Kwang-Min KM Shy Michael E ME Krajewski Karen M KM Hwang Miok M Park June-Hee JH Jang Sue-Yon SY Won Hong-Hee HH Choi Byung-Ok BO Hong Sung Hwa SH Kim Byoung-Joon BJ Suh Yeon-Lim YL Ki Chang-Seok CS Lee Soo-Youn SY Kim Sun-Hee SH Kim Jong-Won JW
American journal of human genetics 20070629 3
We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients invariably develop sensorineural hearing loss of prelingual type followed by gating disturbance and visual loss. The family of European descent was reported in 1967 as having Rosenberg-Chutorian syndrome, ...[more]