title: Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.
abstract: Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier by us in a consanguineous family. We report on identification of mutations in BHLHA9 gene in this condition. Our results indicate that Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) are likely to be allelic disorders. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.|Graduate Studies, Manipal University, Manipal, India.
authors.forename: Anjana
authors.initials: A
authors.lastname: Kar
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Aneek Das
authors.initials: AD
authors.lastname: Bhowmik
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D017689:Polydactyly; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D013576:Syndactyly / Q000235:genetics; D013580:Synostosis / Q000175:diagnosis / Q000235:genetics*; D014034:Toes / Q000002:abnormalities*
keywords: BHLHA9; camptosynpolydactyly; exome sequencing; limb deformity; mesoaxial synostotic syndactyly; polydactyly