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

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

Content Provider	Scilit
Author	Cammarata-Scalisi, Francisco Matysiak, Uta Willoughby, Colin E. Ruzaike, Gunda Tadich, Antonio Cárdenas Castillo, Maykol Araya Zara-Chirinos, Carmen Bracho, Ana Avendaño, Andrea Jilani, Houweyda Callea, Michele
Copyright Year	2021
Description	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.
Related Links	http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0041-1732474.pdf
ISSN	21464596
DOI	10.1055/s-0041-1732474
Journal	Journal of Pediatric Genetics
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2021-07-26
Access Restriction	Open
Subject Keyword	Journal: Journal of Pediatric Genetics Pediatrics and Child Health Skeletal Dysplasia Spondylometaphyseal Dysplasia Algerian Type Col2a1 Gene
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical) Pediatrics, Perinatology and Child Health

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