Genetic Mapping of Hereditary Ectodermal Dysplasias and Hair Loss Genes

The study focused on genetic mapping of hereditary ectodermal dysplasias and hair loss genes in 18 Pakistani families. Six families with ectodermal dysplasias and 12 with hereditary hair loss were analyzed at clinical and molecular levels. Notable findings included a splice donor site mutation in the EDAR gene linked to hypohidrotic ectodermal dysplasia, a complex deletion in the STS gene associated with X-linked recessive ichthyosis, and a novel nonsense mutation in the RSPO4 gene related to anonychia congenita. For hair loss, mutations in genes such as KRT74, DSG4, LIPH, and LPAR6 were identified, with some families showing novel mutations. The study highlighted the genetic diversity and potential for novel gene discovery in consanguineous populations.