Novel familial mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.

Ectodermal dysplasia (ED) syndromes are a heterogeneous group of disorders characterized by defects in two or more ectodermal structures. At least one of the structures must involve the hair, teeth, nails, or sweat glands. ED-12 is a rare subtype of ED that is linked to mutations in the keratinocyte differentiation factor 1 () gene. The present study describes a novel mutation, c.812A>C (p.Lys271Thr), identified in four family members across three generations. Following the birth of a child with natal teeth, whole exome sequencing was performed and revealed the presence of the novel mutation. Sanger sequencing of the gene in other family members confirmed the presence of the same mutation in three other family members. Clinical manifestations of the carrier family members included natal teeth at birth, hypodontia, atopic dermatitis and dystrophic toenails. To the best of our knowledge, this is the third documented case of natal teeth associated with a mutation, contributing to the establishment of genotype-phenotype associations and to the enhancement of genetic counseling practices.