A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

Francisco Cammarata-Scalisi, Uta Matysiak, Colin E. Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea

Research output: Contribution to journalReview articlepeer-review

Abstract

AbstractSpondylometaphyseal 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.
Original languageEnglish
JournalJournal of Pediatric Genetics
Early online date26 Jul 2021
DOIs
Publication statusE-pub ahead of print - 26 Jul 2021

Keywords

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • COL2A1 gene
  • spondylometaphyseal dysplasia Algerian type
  • skeletal dysplasia

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