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

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 heterozyg...

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Bibliographic Details
Main Authors: Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho
Format: Article
Language:English
Published: Nature Publishing Group 2021-05-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00149-7
Description
Summary: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.
ISSN:2054-345X

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