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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.

ABSTRACT: An 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome sequencing data revealed novel compound heterozygous mutations of COL27A1 (c.[4229_4233dup]; [3718_5436del], p.[Gly1412Argfs*157];[Gly1240_Lys1812del]) in the proband, which were inherited from heterozygous parents. The maternal mutation was a large deletion encompassing exons 38-60, which was challenging to detect.

SUBMITTER: Kim JS

PROVIDER: S-EPMC8105406 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.

Kim Jong Seop JS Jeon Hyoungseok H Lee Hyeran H Ko Jung Min JM Kim Yonghwan Y Choi Murim M Nishimura Gen G Kim Ok-Hwa OH Cho Tae-Joon TJ

Human genome variation 20210507 1

An 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome sequencing data revealed novel compound heterozygous mutations of COL27A1 (c.[4229_4233dup]; [3718_5436del], p.[Gly1412Argfs*157];[Gly1240_Lys1812del]) in the proband, which were inherited from heterozygous parents. The maternal mutation was a large deletion ...[more]

PMID: 33963180

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