Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation
| Autor: | Vijayalakshmi Salem Ramakumaran, Ashwin Dalal, Aneek Das Bhowmik |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Foot Deformities Congenital Genotype DNA Mutational Analysis Mutation Missense Biology 03 medical and health sciences symbols.namesake 0302 clinical medicine TARSAL-CARPAL COALITION SYNDROME Genetics medicine Humans Missense mutation Gene Alleles Carpal Bones Genetic Association Studies Genetics (clinical) Sanger sequencing Genetic disorder Tarsal Bones New variant medicine.disease Phenotype Stapes Pedigree Radiography 030104 developmental biology Synostosis Mutation (genetic algorithm) symbols Female Carrier Proteins Hand Deformities Congenital 030217 neurology & neurosurgery |
| Zdroj: | American Journal of Medical Genetics Part A. 176:219-224 |
| ISSN: | 1552-4825 |
| Popis: | We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense mutation in NOG gene (NM_005450.4:c.611G>A) in all the affected individuals of the family. Until now only six mutations have been reported in different families affected with TCC syndrome worldwide. This report further delineates the phenotypic spectrum of this rare disorder with the addition of a new variant to the mutation spectrum. |
| Databáze: | OpenAIRE |
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