Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.
We report a large Mexican kindred with a variant form of congenital universal hypertrichosis that is inherited in an apparent X-linked recessive manner. In addition to the generalized hypertrichosis, the affected individuals have dental malformations and deafness. Males are more severely affected than females who exhibit only mild hypertrichosis, but not deafness or dental anomalies. Haplotype analysis in this pedigree revealed linkage to a 13-cM region on chromosome Xq24-q27.1 between markers GATA198A10 and DXS8106. Localization of the gene underlying this form of hypertrichosis is the initial step in identifying genes on the X chromosome that are involved in the control of hair growth and development.
Tadin-Strapps
M
M
Department of Genetics, Dermatology and Pediatrics, Columbia University, New York, NY, USA.
Salas-Alanis
J C
JC
Moreno
L
L
Warburton
D
D
Martinez-Mir
A
A
Christiano
A M
AM
D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000235:genetics*; D008297:Male; D008800:Mexico; D010375:Pedigree; D010641:Phenotype; D014071:Tooth Abnormalities / Q000235:genetics*