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

doi:10.1055/s-0041-1732474

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

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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.

Original language	English
Journal	Journal of Pediatric Genetics
Early online date	26 Jul 2021
DOIs	https://doi.org/10.1055/s-0041-1732474
Publication status	Published online - 26 Jul 2021

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1055/s-0041-1732474

JPG_2100013Author Accepted Manuscript, 411 KBLicence: CC BY-NC-ND

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Cammarata-Scalisi, F., Matysiak, U., Willoughby, C. E., Ruzaike, G., Cárdenas Tadich, A., Araya Castillo, M., Zara-Chirinos, C., Bracho, A., Avendaño, A., Jilani, H., & Callea, M. (2021). A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1. Journal of Pediatric Genetics. Advance online publication. https://doi.org/10.1055/s-0041-1732474

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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.",

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doi = "10.1055/s-0041-1732474",

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T1 - A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

AU - Cammarata-Scalisi, Francisco

AU - Matysiak, Uta

AU - Willoughby, Colin E.

AU - Ruzaike, Gunda

AU - Cárdenas Tadich, Antonio

AU - Araya Castillo, Maykol

AU - Zara-Chirinos, Carmen

AU - Bracho, Ana

AU - Avendaño, Andrea

AU - Jilani, Houweyda

AU - Callea, Michele

PY - 2021/7/26

Y1 - 2021/7/26

N2 - 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.

AB - 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.

KW - Genetics(clinical)

KW - Pediatrics, Perinatology, and Child Health

KW - COL2A1 gene

KW - spondylometaphyseal dysplasia Algerian type

KW - skeletal dysplasia

U2 - 10.1055/s-0041-1732474

DO - 10.1055/s-0041-1732474

M3 - Review article

SN - 2146-4596

JO - Journal of Pediatric Genetics

JF - Journal of Pediatric Genetics

ER -

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

Abstract

Keywords

UN SDGs

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