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New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.
Toral López, Jaime; Gómez Martinez, Sandra; Rivera Vega, María Del Refugio; Hernández-Zamora, Edgar; Cuevas Covarrubias, Sergio; Ibarra Castrejón, Belem Arely; González Huerta, Luz María.
Afiliação
  • Toral López J; Department of Medical Genetics, Centro Médico Ecatepec ISSEMYM, Ecatepec 55000, México State, Mexico.
  • Gómez Martinez S; Servicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
  • Rivera Vega MDR; Servicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
  • Hernández-Zamora E; Medicina Genómica, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", México City 14389, Mexico.
  • Cuevas Covarrubias S; Servicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
  • Ibarra Castrejón BA; Servicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
  • González Huerta LM; Servicio de Genética, Hospital General de México "Eduardo Liceaga" (HGM), México City 06720, Mexico.
Biology (Basel) ; 13(3)2024 Mar 08.
Article em En | MEDLINE | ID: mdl-38534443
ABSTRACT
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 (RUNX2) 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 analyses of the RUNX2 gene were performed for Sanger sequencing. Bioinformatics tools were used to predict the function, stability, and structural changes of the mutated RUNX2 proteins. Three novel heterozygous mutations (c.651_652delTA; 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-related, and structural alterations in the RUNX2 protein. Our results show novel mutations that enrich the pool of RUNX2 gene mutations with CCD. Moreover, the proband 1 presented clinical data not previously reported that could represent an expanded phenotype of severe expression.
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Texto completo: 1 Base de dados: MEDLINE País como assunto: Mexico Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE País como assunto: Mexico Idioma: En Ano de publicação: 2024 Tipo de documento: Article