Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis

Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis

Abstract Background Neurodevelopmental diseases are a group of disorders affecting the development of the nervous system and brain function. In particular, neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities is a novel neurodevelopmental syndrome caused by biallel...

Full description

Bibliographic Details
Main Authors:	Donya Ghazi-Nader, Behnam Karimi, Reza Alibakhshi, Maziar Ganji
Format:	Article
Language:	English
Published:	SpringerOpen 2023-10-01
Series:	Egyptian Journal of Medical Human Genetics
Subjects:	PPP1R21 Neurodevelopmental disorder Whole exome sequencing
Online Access:	https://doi.org/10.1186/s43042-023-00444-8

Similar Items

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population
by: Julian Lamilla, et al.
Published: (2025-02-01)

Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
by: Chunli Wang, et al.
Published: (2023-07-01)

Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder
by: Hong Zheng, et al.
Published: (2022-11-01)

Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders
by: Qingqing Wang, et al.
Published: (2022-05-01)

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene
by: Mehdi Agha Gholizadeh, et al.
Published: (2022-04-01)

Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families
by: Masroor Ellahi Babar, et al.
Published: (2022-09-01)

A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing
by: Gulhan Gurel, et al.
Published: (2022-12-01)

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder
by: Nikoletta Nagy, et al.
Published: (2024-01-01)

Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
by: Lu Xu, et al.
Published: (2022-06-01)

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases
by: Soojin Park, et al.
Published: (2022-09-01)

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders
by: Dandan Wu, et al.
Published: (2025-01-01)

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing
by: Ruohao Wu, et al.
Published: (2024-05-01)

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
by: Yuqi Shao, et al.
Published: (2024-04-01)

Case report: A de novo variant of CRMP1 in an individual with a neurodevelopmental disorder
by: Juan Liu, et al.
Published: (2024-12-01)

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay
by: Teodora Chamova, et al.
Published: (2024-07-01)

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
by: Fatemeh Bitarafan, et al.
Published: (2023-07-01)

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders
by: Chao Gao, et al.
Published: (2019-05-01)

A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree
by: Lihua Yu, et al.
Published: (2023-05-01)

Perbandingan Ketelitian GNSS dengan Metode NRTK, Real-Time PPP dan Post-Processed PPP
by: Syafril Ramadhon, et al.
Published: (2022-12-01)

A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease
by: Zeinab Jamiri, et al.
Published: (2022-05-01)

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy
by: Samira Kalayinia, et al.
Published: (2022-08-01)

EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
by: Sleptsova M, et al.
Published: (2024-03-01)

Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder
by: Tayyaba Afsar, et al.
Published: (2024-01-01)

Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene
by: Tao Zhang, et al.
Published: (2023-08-01)

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities
by: Hua Wang, et al.
Published: (2022-04-01)

Two New Variants in FYCO1 Are Responsible for Autosomal Recessive Congenital Cataract in Iranian Population
by: Ebrahim Shirzadeh, et al.
Published: (2022-09-01)

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review
by: Mohammad-Reza Ghasemi, et al.
Published: (2024-01-01)

A Case Report of Hiatt-Neu-Cooper Neurodevelopmental Syndrome
by: GUO Jiajia, et al.
Published: (2024-07-01)

TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia
by: Mahsa Sadat Asl Mohajeri, et al.
Published: (2021-07-01)

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
by: Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
Published: (2020-03-01)

Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous Mutation
by: So Jeong Kim, et al.
Published: (2021-12-01)

The Implementation of Precise Point Positioning (PPP): A Comprehensive Review
by: Mohamed Elsheikh, et al.
Published: (2023-10-01)

Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences
by: Tania Cuppens, et al.
Published: (2023-09-01)

A pigmentary manifestation associated with PPP2R5D-related neurodevelopmental disorder: a case report and review of literature
by: Philippe Pierre Robichaud, et al.
Published: (2023-07-01)

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
by: Safoura Zardadi, et al.
Published: (2020-12-01)

Novel pyrroline-5-carboxylate reductase 2 (PYCR2) mutation in an Iranian patient with hypomyelinating leukodystrophy: findings of molecular and in silico investigations
by: Maryam Akbari, et al.
Published: (2023-01-01)

THE PERFORMANCE ANALYSIS OF THE POST-MISSION WEB-BASED STATIC AND KINEMATIC PPP-AR SERVICE
by: Bilal Mutlu, et al.
Published: (2023-01-01)

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
by: Marketa Wayhelova, et al.
Published: (2024-02-01)

Influence of Selected Factors on Implementation of the PPP Projects in Transport
by: Beata Zagożdżon, et al.
Published: (2021-01-01)

Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia
by: Tahereh Dianat, et al.
Published: (2022-12-01)