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

Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok Hwa Kim, Tae Joon Cho

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number17
JournalHuman Genome Variation
Volume8
Issue number1
DOIs
StatePublished - Dec 2021

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