Abstract
Ectodermal dysplasia syndromes are genetically heterogeneous group of disorders involving one or more of the classical ectodermal appendages (hair, nail, teeth, sweat glands) in association with anomalies of other organs or systems. In the present study a novel form of ectodermal dysplasia syndrome, ectodermal dysplasia cutaneous syndactyly (EDCS), segregating in an autosomal recessive pattern in a Pakistani family was investigated. The clinical features of the affected individuals included large prominent ear pinnae, tooth enamel hypoplasia, hypoplastic nails, bilateral partial cutaneous syndactyly, hypotrichosis, palmoplantar keratoderma and hyperhidrosis. Through genetic linkage study, EDCS syndrome was mapped on human chromosome 7p21.1-p14.3 flanked by markers D7S488 and D7S817. A maximum two-point LOD score of 2.94 (theta = 0.00) was obtained at marker D7S2496 while a maximum multipoint LOD score of 3.07 was obtained with several markers along the disease-interval. This interval spans 19.80-cM, which corresponds to 13.74-Mbp according to the sequence-based physical map (Build 36.1). Sequence analysis of 27 candidate genes, located in the candidate interval, did not reveal any functional sequence variant.