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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
- Authors
- Kim, Jong Seop; Jeon, Hyoungseok; Lee, Hyeran; Ko, Jung Min; Kim, Yonghwan; Choi, Murim; Nishimura, Gen; Kim, Ok-Hwa; Cho, Tae-Joon
- Issue Date
- May-2021
- Publisher
- Springer Nature
- Citation
- Human Genome Variation, v.8, no.1, pp 1 - 4
- Pages
- 4
- Journal Title
- Human Genome Variation
- Volume
- 8
- Number
- 1
- Start Page
- 1
- End Page
- 4
- ISSN
- 2054-345X
2054-345X
- 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. ? 2021, The Author(s).
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