title: A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.
abstract: Chondroectodermal dysplasias are genetically heterogeneous group of disorders involving defects in one or more ectodermal appendages (hair, nail, teeth and sweat glands) in association with anomalies of the cartilage. In the present study a novel form of chondroectodermal dysplasia, segregating in an autosomal recessive pattern in a Pakistani family, was investigated. The clinical features including proportionate short stature, osteopenia with fracturing and breaking of bones, hypodontia, hypertrophic and convex shaped nails, night blindness, watering eyes and infection of ears were observed in affected individuals of the family. Genetic linkage study mapped the novel autosomal recessive form of chondroectodermal dysplasia on human chromosome 2q24.1-q31.1. Linkage to the region was established by scanning human genome using Human Mapping 250K Nsp array. Linkage interval for chondroectodermal dysplasia on human chromosome 2q24.1-q31.1 spans 13.76 cM, which corresponds to 15.72 Mb according to the sequence-based physical map (Build 36.2). The maximum multipoint LOD score of 3.37 was obtained with several markers along the disease interval. Sequence analysis of three candidate genes (TANK, ITGB6, TBR1) located in the candidate interval did not discover potentially causal variants.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Bushra
authors.initials: B
authors.lastname: Khan
authors.forename: Sulman
authors.initials: S
authors.lastname: Basit
authors.forename: Muhammad
authors.initials: M
authors.lastname: Touseef
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Muhammad Nasim
authors.initials: MN
authors.lastname: Khan
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004613:Ellis-Van Creveld Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D039641:Integrin beta Chains / Q000235:genetics; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011859:Radiography; D020825:T-Box Domain Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D039641:Integrin beta Chains; D020825:T-Box Domain Proteins; C484406:TANK protein, human; C574705:TBR1 protein, human; C072170:integrin beta6