Ontology highlight
ABSTRACT:
SUBMITTER: Jumlongras D
PROVIDER: S-EPMC1226049 | biostudies-literature | 2001 Jul
REPOSITORIES: biostudies-literature
Jumlongras D D Bei M M Stimson J M JM Wang W F WF DePalma S R SR Seidman C E CE Felbor U U Maas R R Seidman J G JG Olsen B R BR
American journal of human genetics 20010516 1
Witkop syndrome, also known as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder. Affected individuals have nail dysplasia and several congenitally missing teeth. To identify the gene responsible for TNS, we used candidate-gene linkage analysis in a three-generation family affected by the disorder. We found linkage between TNS and polymorphic markers surrounding the MSX1 locus. Direct sequencing and restriction-enzyme analysis revealed that a heterozygous stop mutation in the ...[more]