1. A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
- Author
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Faryal S, Farooq M, Abdullah U, Ali Z, Saadi SM, Ullah F, Khan K, Sarwar Y, Sher M, Chopra AA, Tommerup N, and Baig SM
- Subjects
- Brachydactyly pathology, Female, Frameshift Mutation, Heterozygote, Homozygote, Humans, Male, Musculoskeletal Abnormalities pathology, Osteochondrodysplasias pathology, Pedigree, Brachydactyly genetics, Growth Differentiation Factor 5 genetics, Musculoskeletal Abnormalities genetics, Osteochondrodysplasias genetics
- Abstract
Different mutations in the Growth/Differentiation Factor 5 gene (GDF5) have been associated with varying types of skeletal dysplasia, including Grebe type chondrodysplasia (GTC), Hunter-Thompson syndrome, Du Pan Syndrome and Brachydactyly type C (BDC). Heterozygous pathogenic mutations exert milder effects, whereas homozygous mutations are known to manifest more severe phenotypes. In this study, we report a GDF5 frameshift mutation (c.404delC) segregating over six generations in an extended consanguineous Pakistani family. The family confirmed that both GTC and BDC are part of the GDF5 mutational spectrum, with severe GTC associated with homozygosity, and with a wide phenotypic variability among heterozygous carriers, ranging from unaffected non-penetrant carriers, to classical BDC and to novel unclassified types of brachydactylies., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)
- Published
- 2021
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