Cargando…

Case Report: Identification of Polygenic Mutations by Exome Sequencing

The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G-6PD deficiency was reported. Since the clinical...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Yanfeng, Zheng, Zhongshi, Zhu, Qingling
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567987/ https://www.ncbi.nlm.nih.gov/pubmed/34746046 http://dx.doi.org/10.3389/fped.2021.689901

Ejemplares similares

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
por: Luo, Fang-Mei, et al.
Publicado: (2021)

Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing
por: Tran, Van Khanh, et al.
Publicado: (2023)

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
por: Taylan, Christina, et al.
Publicado: (2020)

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
por: Bouchoucha, Sami, et al.
Publicado: (2023)

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
por: Li, Shuolin, et al.
Publicado: (2022)

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly
por: Naseer, Muhammad Imran, et al.
Publicado: (2021)

Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies
por: Sun, Dan, et al.
Publicado: (2021)

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy
por: Naseer, Muhammad Imran, et al.
Publicado: (2022)

A holistic approach to maximise diagnostic output in trio exome sequencing
por: von Hardenberg, Sandra, et al.
Publicado: (2023)

Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child
por: El Mouhi, Hinde, et al.
Publicado: (2023)

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health
por: Woerner, Audrey C., et al.
Publicado: (2021)

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract
por: Harris, Meredith, et al.
Publicado: (2022)

Genomic signatures and prognosis of advanced stage Chinese pediatric T cell lymphoblastic lymphoma by whole exome sequencing
por: Liu, Qinglin, et al.
Publicado: (2023)

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
por: Han, Ji Yoon, et al.
Publicado: (2020)

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis
por: Pedroza, Luis Alberto, et al.
Publicado: (2017)

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
por: Fozia, Fozia, et al.
Publicado: (2021)

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience
por: Valencia, C. Alexander, et al.
Publicado: (2015)

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)

Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients
por: Al-Numan, Huda Husain, et al.
Publicado: (2022)

MON-270 Diagnostic Exome Sequencing in Children with Permanent Congenital Hypothyroidism
por: Kim, Jisun, et al.
Publicado: (2019)

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies
por: Brozou, Triantafyllia, et al.
Publicado: (2023)

Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings
por: Kapol, Nattiya, et al.
Publicado: (2023)

Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations
por: Jiang, Bingxin, et al.
Publicado: (2021)

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles
por: Riedhammer, Korbinian Maria, et al.
Publicado: (2017)

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples
por: Middha, Sumit, et al.
Publicado: (2015)

Whole-Exome Sequencing Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients
por: Zhang, Yanfeng, et al.
Publicado: (2015)

Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
por: Zhu, Kang, et al.
Publicado: (2023)

Exome arrays capture polygenic rare variant contributions to schizophrenia
por: Richards, A. L., et al.
Publicado: (2016)

Case report: Congenital hyperinsulinemia with ABCC8 gene mutations
por: Zhang, Jin, et al.
Publicado: (2022)

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation
por: Zhang, Wen, et al.
Publicado: (2022)

Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy
por: Zhu, Yu, et al.
Publicado: (2023)

Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics
por: Qi, Tingyue, et al.
Publicado: (2021)

Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations
por: Egashira, Sho, et al.
Publicado: (2016)

Identification of novel mutations in preaxial polydactyly patients through whole‐exome sequencing
por: Wang, Tao, et al.
Publicado: (2019)

Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis
por: Han, Yijiang, et al.
Publicado: (2022)

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report
por: Ni, Jiajia, et al.
Publicado: (2022)

A polygenic predictor of treatment-resistant depression using whole exome sequencing and genome-wide genotyping
por: Fabbri, Chiara, et al.
Publicado: (2020)

Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
por: Yim, Jisook, et al.
Publicado: (2022)

Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis
por: Chen, Yu, et al.
Publicado: (2023)

Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family
por: Zheng, Junmin, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ptf91v44qr0743rmnapkvq62jr