A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review
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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.
Originalsprog | Engelsk |
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Artikelnummer | 104226 |
Tidsskrift | European Journal of Medical Genetics |
Vol/bind | 64 |
Udgave nummer | 7 |
ISSN | 1769-7212 |
DOI | |
Status | Udgivet - 2021 |
Bibliografisk note
Funding Information:
This study was financially supported by Higher Education Commission (HEC) , Pakistan under International Research Support Initiative Program (IRSIP).
Publisher Copyright:
© 2021 Elsevier Masson SAS
ID: 269492411