TY - JOUR
T1 - Clinical and Genetic Heterogeneity of Usher Syndrome
AU - Kimberling, William J.
PY - 2003
Y1 - 2003
N2 - Usher Syndrome, an autosomal recessive disorder characterized by congenital deafness and retinitis pigmentosa (RP), can be classified into three distinct clinical syndromes called types I, II and III. At least seven genes are responsible for Usher type I, three genes have been localized in Usher II families, and one gene has been identified for Usher type III. Three subtypes of Usher syndrome have been characterized fully enough to permit an assessment of their phenotypic heterogeneity. Usher Ib presents with a surprisingly consistent clinical picture of profound hearing loss, severe vestibular disturbance and early onset RP. Usher type IIa also presents with a fairly specific phenotype, although the occasional progressive hearing loss can make it difficult to distinguish from Usher type III. Usher type Id, in contrast, shows considerable phenotypic range: CDH23 mutations are found in patients with congenital progressive non-syndromic recessive deafness, an Usher type II and III phenotype, atypical mild Usher type I, and typical severe Usher type I that is clinically indistinguishable from that due to mutations in MYO7A.
AB - Usher Syndrome, an autosomal recessive disorder characterized by congenital deafness and retinitis pigmentosa (RP), can be classified into three distinct clinical syndromes called types I, II and III. At least seven genes are responsible for Usher type I, three genes have been localized in Usher II families, and one gene has been identified for Usher type III. Three subtypes of Usher syndrome have been characterized fully enough to permit an assessment of their phenotypic heterogeneity. Usher Ib presents with a surprisingly consistent clinical picture of profound hearing loss, severe vestibular disturbance and early onset RP. Usher type IIa also presents with a fairly specific phenotype, although the occasional progressive hearing loss can make it difficult to distinguish from Usher type III. Usher type Id, in contrast, shows considerable phenotypic range: CDH23 mutations are found in patients with congenital progressive non-syndromic recessive deafness, an Usher type II and III phenotype, atypical mild Usher type I, and typical severe Usher type I that is clinically indistinguishable from that due to mutations in MYO7A.
KW - CDH23
KW - Heterogeneity
KW - MY07A
KW - Usher Syndrome
KW - Usherin
UR - http://www.scopus.com/inward/record.url?scp=1842557261&partnerID=8YFLogxK
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U2 - 10.1080/16513860301708
DO - 10.1080/16513860301708
M3 - Review article
AN - SCOPUS:1842557261
SN - 1651-386X
VL - 1
SP - 67
EP - 70
JO - Audiological Medicine
JF - Audiological Medicine
IS - 1
ER -