Cargando…

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report

Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip. Some studies...

Descripción completa

Detalles Bibliográficos
Autores principales:	Qiao, Fengchang, Shao, Binbin, Wang, Chen, Wang, Yan, Zhou, Ran, Liu, Gang, Meng, Lulu, Hu, Ping, Xu, Zhengfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877748/ https://www.ncbi.nlm.nih.gov/pubmed/31803247 http://dx.doi.org/10.3389/fgene.2019.01194

Ejemplares similares

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome
por: Qiao, Fengchang, et al.
Publicado: (2021)

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
por: Qiao, Fengchang, et al.
Publicado: (2019)

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family
por: Wang, Rongrong, et al.
Publicado: (2019)

Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability
por: Li, Boxuan, et al.
Publicado: (2023)

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele
por: Sun, Yixi, et al.
Publicado: (2022)

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus
por: Dong, Yi, et al.
Publicado: (2023)

Sodium channel SCN8A (Na(v)1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
por: O'Brien, Janelle E., et al.
Publicado: (2013)

Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7
por: Obara, Koji, et al.
Publicado: (2023)

A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients
por: Dai, Limeng, et al.
Publicado: (2021)

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
por: Luco, Stephanie M., et al.
Publicado: (2016)

De Novo Mutations in Moderate or Severe Intellectual Disability
por: Hamdan, Fadi F., et al.
Publicado: (2014)

Regulatory de novo mutations underlying intellectual disability
por: De Vas, Matias G, et al.
Publicado: (2023)

Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7
por: Zhou, Cong, et al.
Publicado: (2023)

Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome
por: Alhashem, Amal M, et al.
Publicado: (2020)

Editorial: Developmental delay and intellectual disability
por: Banerjee, Santasree, et al.
Publicado: (2022)

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
por: Lee, Kyu-Sun, et al.
Publicado: (2020)

Intellectual Disability and Potassium Channelopathies: A Systematic Review
por: Kessi, Miriam, et al.
Publicado: (2020)

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability
por: Charif, Majida, et al.
Publicado: (2015)

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
por: Meissner, Laura E., et al.
Publicado: (2020)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
por: Ito, Yoko, et al.
Publicado: (2018)

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family
por: Duan, Yongheng, et al.
Publicado: (2017)

Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability
por: Hnoonual, Areerat, et al.
Publicado: (2019)

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
por: Pengelly, Reuben J, et al.
Publicado: (2016)

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy
por: Zhou, Jing, et al.
Publicado: (2018)

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
por: Blackburn, Alexandria T.M., et al.
Publicado: (2019)

Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review
por: Baine-Savanhu, Fiona, et al.
Publicado: (2023)

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
por: de Lange, Iris M, et al.
Publicado: (2016)

Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome
por: Pijuan, Isabel, et al.
Publicado: (2022)

Novel SETBP1 mutation in a chinese family with intellectual disability
por: Wang, Le, et al.
Publicado: (2023)

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies
por: Ji, Xiuqing, et al.
Publicado: (2018)

Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study
por: Akasaka, Manami, et al.
Publicado: (2020)

De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability
por: Chen, Wen-Xiong, et al.
Publicado: (2022)

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability
por: Lam, Wayne W.K., et al.
Publicado: (2016)

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
por: Ufartes, Roser, et al.
Publicado: (2020)

De novo diagnostics of patients with intellectual disability
por: Veltman, Joris A
Publicado: (2012)

Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis
por: Xia, Zhengyi, et al.
Publicado: (2023)

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study
por: Binquet, Christine, et al.
Publicado: (2022)

Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
por: Xiang, Jingjing, et al.
Publicado: (2021)

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder
por: Krämer, Johannes, et al.
Publicado: (2021)

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability
por: Parker, Michael J., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_t2c1q327l08jmqm03vsqtcuo0j