Two frequent missense mutations in Pendred syndrome |
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Authors: | Van Hauwe P; Everett LA; Coucke P; Scott DA; Kraft ML; Ris-Stalpers C; Bolder C; Otten B; de Vijlder JJ; Dietrich NL; Ramesh A; Srisailapathy SC; Parving A; Cremers CW; Willems PJ; Smith RJ; Green ED; Van Camp G |
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Institution: | Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium. |
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Abstract: | Pendred syndrome is an autosomal recessive disorder characterized by early
childhood deafness and goiter. A century after its recognition as a
syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to
chromosome 7q22-q31.1 and, recently, found to encode a putative sulfate
transporter. We performed mutation analysis of the PDS gene in patients
from 14 Pendred families originating from seven countries and identified
all mutations. The mutations include three single base deletions, one
splice site mutation and 10 missense mutations. One missense mutation
(L236P) was found in a homozygous state in two consanguineous families and
in a heterozygous state in five additional non-consanguineous families.
Another missense mutation (T416P) was found in a homozygous state in one
family and in a heterozygous state in four families. Pendred patients in
three non-consanguineous families were shown to be compound heterozygotes
for L236P and T416P. In total, one or both of these mutations were found in
nine of the 14 families analyzed. The identification of two frequent PDS
mutations will facilitate the molecular diagnosis of Pendred syndrome.
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