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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
- Kim, Jong Seop;
- Jeon, Hyoungseok;
- Lee, Hyeran;
- Ko, Jung Min;
- Kim, Yonghwan;
- 외 4명
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4초록
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).
- 제목
- Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
- 저자
- Kim, Jong Seop; Jeon, Hyoungseok; Lee, Hyeran; Ko, Jung Min; Kim, Yonghwan; Choi, Murim; Nishimura, Gen; Kim, Ok-Hwa; Cho, Tae-Joon
- 발행일
- 2021-05
- 유형
- Article; Data Paper
- 저널명
- Human Genome Variation
- 권
- 8
- 호
- 1
- 페이지
- 1 ~ 4