A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with dis...

Full description

Saved in:

Bibliographic Details
Main Authors:	Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
Format:	Article
Language:	English
Published:	Wiley 2024-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2024/5906936
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
by: Nivedita U. Jerath
Published: (2022-01-01)

Protein C deficiency with recurrent systemic thrombosis associated with compound heterozygous PROC missense variants
by: Mikio Shiba, et al.
Published: (2025-02-01)

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis
by: Daigo Nishijo, et al.
Published: (2024-01-01)

A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient
by: Li Yang, et al.
Published: (2025-01-01)

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease
by: Kuan Fan, et al.
Published: (2019-01-01)

Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking
by: Xiao-Yao Li, et al.
Published: (2025-01-01)

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
by: Layla Masuda, et al.
Published: (2024-08-01)

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
by: Kenta Hanada, et al.
Published: (2024-08-01)

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
by: Rafat Mosalli, et al.
Published: (2022-01-01)

Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3
by: Haixia Zheng, et al.
Published: (2025-01-01)

Identifying novel heterozygous PI4KA variants in fetal abnormalities
by: Chen Cheng, et al.
Published: (2025-01-01)

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
by: Efil Bayam, et al.
Published: (2024-11-01)

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
by: Rina Shimomura, et al.
Published: (2024-01-01)

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
by: Xiujuan Yang, et al.
Published: (2025-02-01)

Chronic Benign Tubular Albuminuria From Compound Heterozygous Variants in : A Case Report
by: Adam Pietrobon, et al.
Published: (2025-02-01)

Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability
by: Baoqiong Liao, et al.
Published: (2025-01-01)

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants
by: Shintaro Nakamura, et al.
Published: (2024-03-01)

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
by: Michael Zech, et al.
Published: (2017-01-01)

Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant
by: Takuya Sumida, et al.
Published: (2024-12-01)

De Novo Onset of Myasthenia Gravis after Kidney Transplantation
by: Aaron de Souza, et al.
Published: (2024-01-01)

A select inhibitor of MORC2 encapsulated by chimeric membranecoated DNA nanocage target alleviation TNBC progression
by: Xiaohan Su, et al.
Published: (2025-04-01)

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
by: Shiroh Miura, et al.
Published: (2024-01-01)

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS
by: Rong Liang, et al.
Published: (2025-02-01)

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses
by: Yuying Zhu, et al.
Published: (2025-02-01)

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
by: Melanie P. Napier, et al.
Published: (2025-04-01)

Glutamine missense suppressor transfer RNAs inhibit polyglutamine aggregation
by: Rasangi Tennakoon, et al.
Published: (2025-03-01)

CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions
by: V. Montano, et al.
Published: (2019-01-01)

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
by: Li Huang, et al.
Published: (2021-01-01)

Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
by: Ming Li, et al.
Published: (2025-02-01)

Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”
by: Josef Finsterer
Published: (2020-01-01)

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
by: Antoneicka L. Harris, et al.
Published: (2018-01-01)

A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants
by: Kyle N. Goodman, et al.
Published: (2024-01-01)

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
by: Tatiana G. Markova, et al.
Published: (2024-03-01)

Disclosing the Complexities of Childhood Neurodevelopmental Disorders
by: Luigi Tarani, et al.
Published: (2024-12-01)

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
by: Yohei Masunaga, et al.
Published: (2024-01-01)

Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report
by: Yizhuo Shu, et al.
Published: (2025-01-01)

Lipoprotein (a) levels in children with heterozygous familial hypercholesterolemia
by: Liliya F. Galimova, et al.
Published: (2024-12-01)

Predicting the impact of missense mutations on an unresolved protein’s stability, structure, and function: A case study of Alzheimer’s disease-associated TREM2 R47H variant
by: Joshua Pillai, et al.
Published: (2025-01-01)

Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities
by: Wencong He, et al.
Published: (2025-01-01)

Editorial: Advancements and challenges in autism and other neurodevelopmental disorders
by: Sara Calderoni, et al.
Published: (2024-02-01)