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A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele.
Afiliação
  • Cammarata-Scalisi F; Departamento of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.
  • Matysiak U; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Willoughby CE; Genomic Medicine, School of Biomedical Sciences, Ulster University, Northern Ireland, United Kingdom.
  • Ruzaike G; Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Cárdenas Tadich A; Departamento of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.
  • Araya Castillo M; Clinical Laboratory, Regional Hospital of Antofagasta, Chile.
  • Zara-Chirinos C; Institute of Genetic Research, Faculty of Medicine, University of Zulia, Maracaibo, Venezuela.
  • Bracho A; Institute of Genetic Research, Faculty of Medicine, University of Zulia, Maracaibo, Venezuela.
  • Avendaño A; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.
  • Jilani H; Genetic Department, Mongi Slim Hospital, Marsa, Tunisia.
  • Callea M; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.
J Pediatr Genet ; 12(4): 339-341, 2023 Dec.
Article em En | MEDLINE | ID: mdl-38162154
ABSTRACT
Spondylometaphyseal dysplasia Algerian type (MIM no. 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no. 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, short trunk, and severe genu valgum . Radiological examination showed platyspondyly, irregular metaphyseal radiolucencies intermingled with radiodensities, and corner fractures. The patient has a c.3275G > A; p.Gly1092Asp mutation in exon 47 of the COL2A1 gene and a variant of unknown significance in c.1366-13C > A in intron 21. This latter sequence variant could partially or completely disrupt the natural splice acceptor site of intron 21/exon 22 in the COL2A1 gene leading to a potential modification of the phenotypic severity.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Chile País de publicação: Alemanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Chile País de publicação: Alemanha