Cargando…

Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature

BACKGROUND: Liver failure caused by TRMU is a rare hereditary disorder and clinically manifests into metabolic acidosis, hyperlactatemia, and hypoglycemia. Limited spectrum of TRMU pathogenic variants has been reported. METHODS: Whole‐exome sequencing was employed for the diagnosis of a 5‐day‐old fe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Qin, Zailong, Yang, Qi, Yi, Shang, Huang, Limei, Shen, Yiping, Luo, Jingsi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767550/ https://www.ncbi.nlm.nih.gov/pubmed/33205917 http://dx.doi.org/10.1002/mgg3.1515

Ejemplares similares

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing
por: Yang, Qi, et al.
Publicado: (2022)

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy
por: Xie, Bobo, et al.
Publicado: (2020)

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
por: Su, Jiasun, et al.
Publicado: (2021)

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review
por: Yang, Qi, et al.
Publicado: (2023)

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship
por: Lu, Weiliang, et al.
Publicado: (2020)

Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia
por: Li, Mengting, et al.
Publicado: (2020)

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency
por: Hao, Chanjuan, et al.
Publicado: (2018)

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature
por: Zhang, Qiang, et al.
Publicado: (2020)

Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
por: Yang, Kai, et al.
Publicado: (2019)

Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability
por: Yi, Sheng, et al.
Publicado: (2022)

Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
por: Yang, Jamie O., et al.
Publicado: (2022)

Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency
por: Mat Ripen, Adiratna, et al.
Publicado: (2020)

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome
por: Zhuang, Jianlong, et al.
Publicado: (2023)

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient
por: Liu, Lv, et al.
Publicado: (2018)

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
por: Zhao, Mei, et al.
Publicado: (2019)

Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease
por: Li, Tianbai, et al.
Publicado: (2020)

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
por: Yi, Sheng, et al.
Publicado: (2021)

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder
por: Tang, Fengzhu, et al.
Publicado: (2017)

A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing
por: Wang, Li, et al.
Publicado: (2021)

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1
Publicado: (2018)

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1
por: Blackburn, Patrick R., et al.
Publicado: (2017)

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates
por: Fu, Chunyun, et al.
Publicado: (2018)

Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
por: Zhou, Yu, et al.
Publicado: (2014)

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene
por: Zhang, Qiang, et al.
Publicado: (2022)

Clinical application of whole-exome sequencing: A retrospective, single-center study
por: Zhang, Qiang, et al.
Publicado: (2021)

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
por: Gao, Xue, et al.
Publicado: (2013)

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
por: Rolvien, Tim, et al.
Publicado: (2020)

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
por: Micheal, Shazia, et al.
Publicado: (2015)

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing
por: Linhares, Natália D., et al.
Publicado: (2021)

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
por: Méndez-Vidal, Cristina, et al.
Publicado: (2013)

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia
por: Okada, Hirofumi, et al.
Publicado: (2022)

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene
por: Yi, Sheng, et al.
Publicado: (2023)

Search for compound heterozygous effects in exome sequence of unrelated subjects
por: Christensen, G Bryce, et al.
Publicado: (2011)

Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes
por: Lin, Yubi, et al.
Publicado: (2019)

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa
por: Cui, Li‐min, et al.
Publicado: (2022)

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
por: Huang, Li, et al.
Publicado: (2021)

Whole-exome sequencing identifies variants in invasive pituitary adenomas
por: Lan, Xiaolei, et al.
Publicado: (2016)

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis
por: Catania, Alessia, et al.
Publicado: (2018)

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome
por: Qiao, Fengchang, et al.
Publicado: (2021)

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa
por: Wang, Yun, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_6p3dkj153q87590iob43svfbdb