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...

Full description

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

Similar Items

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
by: Jieun Seo, et al.
Published: (2020-08-01)

Dental malformations associated with biallelic MMP20 mutations
by: Shih‐Kai Wang, et al.
Published: (2020-08-01)

Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations
by: Liliana Guerra, et al.
Published: (2018-01-01)

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
by: Neng Yang, et al.
Published: (2020-08-01)

Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations
by: Kimberly E. Foil, et al.
Published: (2018-01-01)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
by: Martin Krenn, et al.
Published: (2019-05-01)

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
by: Elise Schaefer, et al.
Published: (2019-01-01)

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
by: Davide Eletto, et al.
Published: (2016-12-01)

Prognostic Nomogram for Acute Myeloid Leukemia Patients With Biallelic CEBPA Mutations
by: Xiaoyu Xu, et al.
Published: (2021-08-01)

GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism
by: Catarina I Gonçalves, et al.
Published: (2017-07-01)

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss
by: Thomas Nixon, et al.
Published: (2020-09-01)

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
by: Edith Bonnin, et al.
Published: (2018-12-01)

Biallelic Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review
by: Shahad AlSaif, et al.
Published: (2019-05-01)

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
by: Lu Yang, et al.
Published: (2020-03-01)

Efficient generation of myostatin (MSTN) biallelic mutations in cattle using zinc finger nucleases.
by: Junjie Luo, et al.
Published: (2014-01-01)

Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency
by: Beili Chen, et al.
Published: (2018-06-01)

Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations
by: B. Zirn, et al.
Published: (2021-03-01)

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations
by: Elena Abati, et al.
Published: (2021-05-01)

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the <i>BEST1</i> Gene
by: Karsten Hufendiek, et al.
Published: (2020-12-01)

Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations
by: Aude Anquetil, et al.
Published: (2021-09-01)

Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations
by: Michele Pelosi, et al.
Published: (2017-12-01)

Biallelic Mismatch Repair Deficiency in an Adolescent Female
by: Amber Hildreth, et al.
Published: (2018-01-01)

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon
by: Ambroise Wonkam, et al.
Published: (2021-03-01)

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
by: Taimoor I. Sheikh, et al.
Published: (2021-01-01)

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)
by: Muhammad Umair, et al.
Published: (2019-08-01)

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
by: Anna Sowińska-Seidler, et al.
Published: (2020-10-01)

Noonan syndrome‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish
by: Yu Nakagama, et al.
Published: (2020-03-01)

Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.
by: Helena E Christiansen, et al.
Published: (2009-12-01)

Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development
by: Lin Zhao, et al.
Published: (2020-07-01)

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
by: Jennifer Friedman, et al.
Published: (2019-02-01)

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
by: Caroline Lekszas, et al.
Published: (2020-02-01)

Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD
by: Jing Jin, et al.
Published: (2019-06-01)

Dissecting the mechanisms of disease of COL4A1 and COL4A2 mutations
by: Murray, Lydia Soraya
Published: (2014)

Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in <i>COL1A2</i>
by: Yejin Lee, et al.
Published: (2021-06-01)

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
by: Jian-Hong Liu, et al.
Published: (2017-01-01)

H3K27me1 is essential for MMP-9-dependent H3N-terminal tail proteolysis during osteoclastogenesis
by: Kyunghwan Kim, et al.
Published: (2018-05-01)

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
by: Nuno Rocha, et al.
Published: (2017-04-01)

Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation
by: Li Liang, et al.
Published: (2018-10-01)

Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3
by: P. El Boustany, et al.
Published: (2018-01-01)

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine
by: Hong Li, et al.
Published: (2018-12-01)