Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

Shubha R Phadke; Anjana Kar; Aneek Das Bhowmik; Ashwin Dalal

doi:10.1002/ajmg.a.37643

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

Am J Med Genet A. 2016 Jun;170(6):1622-5. doi: 10.1002/ajmg.a.37643. Epub 2016 Apr 4.

Authors

Shubha R Phadke¹, Anjana Kar^{2

3}, Aneek Das Bhowmik², Ashwin Dalal²

Affiliations

¹ Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
² Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
³ Graduate Studies, Manipal University, Manipal, India.

PMID: 27041388
DOI: 10.1002/ajmg.a.37643

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.

Keywords: BHLHA9; camptosynpolydactyly; exome sequencing; limb deformity; mesoaxial synostotic syndactyly; polydactyly.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Amino Acid Sequence
Consanguinity
Female
Fingers / abnormalities*
Foot Deformities, Congenital / diagnosis*
Foot Deformities, Congenital / genetics*
Genetic Association Studies*
Genotype
Hand Deformities, Congenital / diagnosis*
Hand Deformities, Congenital / genetics*
Humans
Infant, Newborn
Mutation*
Oligonucleotide Array Sequence Analysis
Pedigree
Polydactyly
Polymorphism, Single Nucleotide
Radiography
Syndactyly / genetics
Synostosis / diagnosis
Synostosis / genetics*
Toes / abnormalities*

Supplementary concepts

Camptosynpolydactyly, Complex