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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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

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spelling	doaj-0a4edcb96a304841b3a2b8dbf70456da2021-05-09T11:14:45ZengNature Publishing GroupHuman Genome Variation2054-345X2021-05-01811410.1038/s41439-021-00149-7Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndromeJong Seop Kim0Hyoungseok Jeon1Hyeran Lee2Jung Min Ko3Yonghwan Kim4Murim Choi5Gen Nishimura6Ok-Hwa Kim7Tae-Joon Cho8Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital and Seoul National University College of MedicineDepartment of Biomedical Sciences, Seoul National University College of MedicineDivision of Pediatric Orthopaedics, Seoul National University Children’s Hospital and Seoul National University College of MedicineDepartment of Pediatrics, Seoul National University Children’s Hospital and Seoul National University College of MedicineDepartment of Biological Sciences, Sookmyung Women’s UniversityDepartment of Biomedical Sciences, Seoul National University College of MedicineCenter for Intractable Disease, Saitama Medical University HospitalDepartment of Pediatric Radiology, VIC365 Children’s HospitalDivision of Pediatric Orthopaedics, Seoul National University Children’s Hospital and Seoul National University College of MedicineAbstract 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.https://doi.org/10.1038/s41439-021-00149-7
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Jong Seop Kim Hyoungseok Jeon Hyeran Lee Jung Min Ko Yonghwan Kim Murim Choi Gen Nishimura Ok-Hwa Kim Tae-Joon Cho
spellingShingle	Jong Seop Kim Hyoungseok Jeon Hyeran Lee Jung Min Ko Yonghwan Kim Murim Choi Gen Nishimura Ok-Hwa Kim Tae-Joon Cho Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome Human Genome Variation
author_facet	Jong Seop Kim Hyoungseok Jeon Hyeran Lee Jung Min Ko Yonghwan Kim Murim Choi Gen Nishimura Ok-Hwa Kim Tae-Joon Cho
author_sort	Jong Seop Kim
title	Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
title_short	Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
title_full	Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
title_fullStr	Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
title_full_unstemmed	Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
title_sort	biallelic novel mutations of the col27a1 gene in a patient with steel syndrome
publisher	Nature Publishing Group
series	Human Genome Variation
issn	2054-345X
publishDate	2021-05-01
description	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.
url	https://doi.org/10.1038/s41439-021-00149-7
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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

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