Cargando…

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Background: Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures. Case presentation: We herein report a Chinese case with a history of three adverse pregnanci...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhuang, Jianlong, Wang, Junyu, Luo, Qi, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Chen, Xinying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459375/ https://www.ncbi.nlm.nih.gov/pubmed/36092864 http://dx.doi.org/10.3389/fgene.2022.964098

Ejemplares similares

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing
por: Zhuang, Jianlong, et al.
Publicado: (2022)

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication
por: Zhuang, Jianlong, et al.
Publicado: (2022)

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
por: Zhuang, Jianlong, et al.
Publicado: (2021)

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
por: Zhuang, Jianlong, et al.
Publicado: (2022)

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
por: Zhuang, Jianlong, et al.
Publicado: (2023)

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review
por: Zhuang, Jianlong, et al.
Publicado: (2022)

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

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing
por: Zhuang, Jianlong, et al.
Publicado: (2022)

Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview
por: Zhuang, Jianlong, et al.
Publicado: (2022)

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
por: Zhuang, Jianlong, et al.
Publicado: (2021)

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review
por: Zhuang, Jianlong, et al.
Publicado: (2023)

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array
por: Zhuang, Jianlong, et al.
Publicado: (2021)

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication
por: Zhuang, Jianlong, et al.
Publicado: (2019)

Lethal multiple pterygium syndrome in a newborn, a case report
por: Sadeghimoghadam, Parvaneh, et al.
Publicado: (2023)

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study
por: Zhuang, Jianlong, et al.
Publicado: (2021)

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene
por: Chen, Caiyuan, et al.
Publicado: (2023)

Lethal multiple pterygium syndrome
por: Joshi, Tulika, et al.
Publicado: (2016)

Epilepsy Combined With Multiple Gene Heterozygous Mutation
por: Qiuju, He, et al.
Publicado: (2022)

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
por: Yu, Fengdan, et al.
Publicado: (2019)

Case report: an unusual unilateral pterygium — a secondary pterygium caused by parasitosis in the scleral fistula
por: Zeng, Wenjie, et al.
Publicado: (2021)

Pterygium combined with corneal perforation: a case report
por: Yang, Tianqi, et al.
Publicado: (2023)

Molecular analysis of a large novel deletion causing α(+)-thalassemia
por: Zhuang, Jianlong, et al.
Publicado: (2019)

In Vitro and Ex Vivo Analysis of CHRNA3 and CHRNA5 Haplotype Expression
por: Doyle, Glenn A., et al.
Publicado: (2011)

Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
por: Xie, Yingjun
Publicado: (2015)

From Men to Mice: CHRNA5/CHRNA3, Smoking Behavior and Disease
por: Ware, Jennifer J., et al.
Publicado: (2012)

CHRNA5 and CHRNA3 polymorphism and lung cancer susceptibility in Palestinian population
por: Ayesh, Basim Mohammad, et al.
Publicado: (2018)

Association of Polymorphism CHRNA5 and CHRNA3 Gene in People Addicted to Nicotine
por: Chmielowiec, Krzysztof, et al.
Publicado: (2022)

CHRNA5/CHRNA3 gene cluster is a risk factor for lumbar disc herniation: a case-control study
por: Yang, Xuejun, et al.
Publicado: (2019)

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis
por: Chen, Yu'e, et al.
Publicado: (2021)

Chromosome 15q25 (CHRNA3-CHRNA5) Variation Impacts Indirectly on Lung Cancer Risk
por: Wang, Yufei, et al.
Publicado: (2011)

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum
por: Kariminejad, Ariana, et al.
Publicado: (2016)

Pterygium: Nonsurgical Treatment Using Topical Dipyridamole – A Case Report
por: Carlock, Beth H., et al.
Publicado: (2014)

Serratia marcescens endophthalmitis after pterygium surgery: a case report
por: Yi, Myeong Yeon, et al.
Publicado: (2017)

Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene
por: Chen, Fang, et al.
Publicado: (2022)

A novel case using femtosecond laser-acquired lenticule for recurrent pterygium: case report and literature review
por: Pant, Om Prakash, et al.
Publicado: (2018)

Staphylococcus-associated marginal keratitis secondary to pterygium surgery: a case report
por: Liu, Xin, et al.
Publicado: (2021)

Surgical Management of Pterygium Colli with Significant Skin Laxity: A Case Report
por: Huttin, Charline, et al.
Publicado: (2023)

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
por: Yang, Kunfang, et al.
Publicado: (2018)

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
por: Lin, Jiansheng, et al.
Publicado: (2023)

CHRNA7 Polymorphisms and Response to Cholinesterase Inhibitors in Alzheimer's Disease
por: Weng, Pei-Hsuan, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_2gugkuuhbgj5hfm69pr4477616