biostudies-literatureUnknown13(3)Toral Lopez JCleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with 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 gene responsible for CCD is the Runt-related transcription factor 2 (<i>RUNX2</i>) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analyBiology173https://www.ebi.ac.uk/biostudies/studies/S-EPMC10968410biostudies-literatureNew Genetic Variants of <i>RUNX2</i> in Mexican Families Cause Cleidocranial Dysplasia.PMC10968410Cuevas Covarrubias SGomez Martinez SRivera Vega MDRHernandez-Zamora EToral Lopez JGonzalez Huerta LMIbarra Castrejon BAfalseNew Genetic Variants of <i>RUNX2</i> in Mexican Families Cause Cleidocranial Dysplasia.Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with 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 gene responsible for CCD is the Runt-related transcription factor 2 (<i>RUNX2</i>) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analy2024-01-01T00:00:00Z2024 Mar2025-04-21T21:32:28.011Z2025-04-05T18:23:01.356ZS-EPMC109684103853444310.3390/biology13030173