Toral López, J.; Gómez Martinez, S.; Rivera Vega, M.R.; Hernández-Zamora, E.; Cuevas Covarrubias, S.; Ibarra Castrejón, B.A.; González Huerta, L.M. New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia. Biology2024, 13, 173.
Toral López, J.; Gómez Martinez, S.; Rivera Vega, M.R.; Hernández-Zamora, E.; Cuevas Covarrubias, S.; Ibarra Castrejón, B.A.; González Huerta, L.M. New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia. Biology 2024, 13, 173.
Toral López, J.; Gómez Martinez, S.; Rivera Vega, M.R.; Hernández-Zamora, E.; Cuevas Covarrubias, S.; Ibarra Castrejón, B.A.; González Huerta, L.M. New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia. Biology2024, 13, 173.
Toral López, J.; Gómez Martinez, S.; Rivera Vega, M.R.; Hernández-Zamora, E.; Cuevas Covarrubias, S.; Ibarra Castrejón, B.A.; González Huerta, L.M. New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia. Biology 2024, 13, 173.
Abstract
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures whit bulging calvaria, hypoplasia or aplasia of clavicles permitting abnormal opposition of the shoulders, wide public symphysis, short middle phalanx of the fifth fingers and vertebral, craniofacial and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The responsible gene of CCD is the runt-related transcription factor 2 gene (RUNX2). We characterize the clinical, genetic and bioinformatic results of four CCD cases.
Two Mexican familial with 6 affected members, 9 asymptomatic individuals, and two sporadic cases with CCD, as well as 100 healthy controls. Genomic DNA analyses of the RUNX2 gene was performed for Sanger sequencing. Bioinformatics tools, used to predict the function, stability, and structural changes of the mutated RUNX2 proteins.
Three novel heterozygous mutations (c.651_652del; c.538_539delinsCA; c.662T>A) and a previously reported mutation (c.674G>A) were detected. In silico analysis showed that all mutations had functional, stability, and structural alterations in RUNX2 protein.
Our results show novel mutations that enrich the pool of RUNX2 gene mutations with CCD. In addition, one patient presented clinical data not previously reported that could represent an expanded phenotype of sever expression.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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