title: A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.
abstract: Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there are communities where Bardet-Biedl Syndrome is found at a higher frequency due to consanguinity. We report here a Pakistani consanguineous family with two affected sons with typical clinical features of Bardet-Biedl Syndrome, in addition to abnormal liver functioning and bilateral basal ganglia calcification, the latter feature being typical of Fahr's disease. Homozygous regions obtained from SNP array depicted three known genes BBS10, BBS14 and BBS2. Bidirectional sequencing of all coding exons by traditional sequencing of all these three genes showed a homozygous deletion of 10 nucleotides (c.1958_1967del), in BBS10 in both affected brothers. The segregation analysis revealed that the parents, paternal grandfather, maternal grandmother and an unaffected sister were heterozygous for the deletion. Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family.
authors: Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.
authors: Zehra
authors: Z
authors: Agha
authors: Zafar
authors: Z
authors: Iqbal
authors: Maleeha
authors: M
authors: Azam
authors: Lies H
authors: LH
authors: Hoefsloot
authors: Hans
authors: H
authors: van Bokhoven
authors: Raheel
authors: R
authors: Qamar
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D018833:Chaperonins; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D015894:Genome, Human; D056385:Group II Chaperonins / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000235:genetics; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence
chemical_list: C512111:BBS10 protein, human; D009711:Nucleotides; D018833:Chaperonins; D056385:Group II Chaperonins