Cargando…

Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls

Background: A false interpretation of homozygosity for pathogenic variants causing autosomal recessive disorders can lead to improper genetic counseling. The aim of this study was to demonstrate the underlying etiologies of presumed homozygous disease-causing variants harbored in six unrelated child...

Descripción completa

Detalles Bibliográficos
Autores principales:	Deng, Haiyue, Zhang, Yanqin, Yao, Yong, Xiao, Huijie, Su, Baige, Xu, Ke, Guan, Na, Ding, Jie, Wang, Fang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7180205/ https://www.ncbi.nlm.nih.gov/pubmed/32363171 http://dx.doi.org/10.3389/fped.2020.00165

Ejemplares similares

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses
por: Bergmann, Carsten
Publicado: (2018)

Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease
por: Wehrman, Andrew, et al.
Publicado: (2017)

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease
por: Hooper, Stephen R.
Publicado: (2017)

Growth in Children with Autosomal Recessive Polycystic Kidney Disease in the CKiD Cohort Study
por: Hartung, Erum A., et al.
Publicado: (2016)

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease
por: Wicher, Dorota, et al.
Publicado: (2019)

Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease
por: Ebner, Kathrin, et al.
Publicado: (2017)

Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease
por: Rivas, Amanda, et al.
Publicado: (2018)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
por: Wang, Xia, et al.
Publicado: (2023)

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy
por: Sheikh, Shakeel A., et al.
Publicado: (2019)

Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice
por: Burgmaier, Kathrin, et al.
Publicado: (2018)

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

Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population
por: Khan, Niaz Muhammad, et al.
Publicado: (2021)

Case report: Severe hypertension-induced priapism in an infant with unrecognized autosomal recessive polycystic kidney disease
por: Konopásek, Patrik, et al.
Publicado: (2023)

Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation
por: Sarquella-Brugada, Georgia, et al.
Publicado: (2021)

A Challenging Case of Hepatoblastoma Concomitant with Autosomal Recessive Polycystic Kidney Disease and Caroli Syndrome—Review of the Literature
por: Kadakia, Nevil, et al.
Publicado: (2017)

A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
por: Lee, Su Jeong, et al.
Publicado: (2019)

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
por: Ravindran, Ethiraj, et al.
Publicado: (2022)

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)
por: Wicher, Dorota, et al.
Publicado: (2020)

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia
por: Cai, Xiaodong, et al.
Publicado: (2016)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
por: Fiorentino, Alessia, et al.
Publicado: (2018)

Should We Consider Alternatives to Universal Well-Child Behavioral-Developmental Screening?
por: Urkin, Jacob, et al.
Publicado: (2015)

A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families
por: Shaikh, Adnan Al, et al.
Publicado: (2020)

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
por: Schnabel, Franziska, et al.
Publicado: (2023)

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
por: Huang, Yukan, et al.
Publicado: (2010)

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR
por: Chang, Mun Young, et al.
Publicado: (2018)

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
por: Khan, Amjad, et al.
Publicado: (2019)

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
por: Zardadi, Safoura, et al.
Publicado: (2020)

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
por: Rad, Aboulfazl, et al.
Publicado: (2022)

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
por: Amin, Mutaz, et al.
Publicado: (2022)

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
por: Xu, Wei, et al.
Publicado: (2023)

Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases
por: Alzarka, Bakri, et al.
Publicado: (2017)

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa
por: Tiab, Leila, et al.
Publicado: (2013)

Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa
por: Wang, Le, et al.
Publicado: (2020)

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
por: Yang, Shi-Lin, et al.
Publicado: (2020)

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
por: Khan, Amjad, et al.
Publicado: (2019)

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature
por: Marco Hernández, Ana Victoria, et al.
Publicado: (2021)

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case
por: Esmaeilzadeh, Hossein, et al.
Publicado: (2022)

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report
por: Levchenko, Olga, et al.
Publicado: (2023)

Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report
por: Yi, You Gyoung, et al.
Publicado: (2019)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Cannot write session to /tmp/vufind_sessions/sess_kthlfak7ddhe688fbps8kac388