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J Pediatr Genet 2023; 12(04): 339-341
DOI: 10.1055/s-0041-1732474
Case-Based Review

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

Francisco Cammarata-Scalisi 
1   Departamento of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile
,
Uta Matysiak
2   Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Colin E. Willoughby
3   Genomic Medicine, School of Biomedical Sciences, Ulster University, Northern Ireland, United Kingdom
,
Gunda Ruzaike
2   Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Antonio Cárdenas Tadich
1   Departamento of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile
,
Maykol Araya Castillo
4   Clinical Laboratory, Regional Hospital of Antofagasta, Chile
,
Carmen Zara-Chirinos
5   Institute of Genetic Research, Faculty of Medicine, University of Zulia, Maracaibo, Venezuela
,
Ana Bracho
5   Institute of Genetic Research, Faculty of Medicine, University of Zulia, Maracaibo, Venezuela
,
Andrea Avendaño
6   Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela
,
Houweyda Jilani
7   Genetic Department, Mongi Slim Hospital, Marsa, Tunisia
8   Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia
,
Michele Callea
9   Division of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
› Author Affiliations Funding None.
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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.

Keywords

skeletal dysplasia - spondylometaphyseal dysplasia Algerian type - COL2A1 gene


Publication History

Received: 10 February 2021

Accepted: 07 June 2021

Article published online:
26 July 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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