Cargando…

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

BACKGROUND: The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in literature thus far. CASE PRESENTATION: We present two brothers with intractabl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Daoqi, Mei, Guohong, Chen, Yuan, Wang, Zhixiao, Yang, Kaili, Xu, Shiyue, Mei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7119275/ https://www.ncbi.nlm.nih.gov/pubmed/32245427 http://dx.doi.org/10.1186/s12881-020-01004-2

Ejemplares similares

A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
por: Polla, Daniel L., et al.
Publicado: (2019)

Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
por: Bogliş, Alina, et al.
Publicado: (2020)

CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature
por: Sun, Ying, et al.
Publicado: (2018)

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
por: Hyder, Zerin, et al.
Publicado: (2021)

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature
por: Kang, Qingyun, et al.
Publicado: (2021)

MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome
por: Siew, Wei-Hong, et al.
Publicado: (2013)

Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders
por: Ito, Hidenori, et al.
Publicado: (2022)

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
por: Reggiani, Claudio, et al.
Publicado: (2017)

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes
por: Niranjan, Tejasvi S., et al.
Publicado: (2015)

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome
por: Abekhoukh, Sabiha, et al.
Publicado: (2014)

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability
por: Li, Sinan, et al.
Publicado: (2023)

Variants in BRWD3 associated with X‐linked partial epilepsy without intellectual disability
por: Tian, Mao‐Qiang, et al.
Publicado: (2022)

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
por: D’Souza, Leera, et al.
Publicado: (2013)

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
por: Darvish, Hossein, et al.
Publicado: (2017)

ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome
por: Striano, Pasquale, et al.
Publicado: (2017)

O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability
por: Konzman, Daniel, et al.
Publicado: (2020)

Novel USP9X variants in two patients with X-linked intellectual disability
por: Tsurusaki, Yoshinori, et al.
Publicado: (2019)

Case report: Phenotype expansion and analysis of TRIO and CNKSR2 variations
por: Liu, Yuefang, et al.
Publicado: (2022)

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability
por: Grau, Christina, et al.
Publicado: (2017)

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability
por: Mayo, Sonia, et al.
Publicado: (2017)

Development and validation of a multiplex-PCR assay for X-linked intellectual disability
por: Jorge, Paula, et al.
Publicado: (2013)

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
por: Ibarluzea, Nekane, et al.
Publicado: (2020)

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
por: Saida, Ken, et al.
Publicado: (2021)

X-linked intellectual disability related to a novel variant of KLHL15
por: Kido, Jun, et al.
Publicado: (2023)

A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay
por: Zhao, Xuechao, et al.
Publicado: (2022)

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)

Psychomotor development and attention problems caused by a splicing variant of CNKSR2
por: Zhang, Yi, et al.
Publicado: (2020)

An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability
por: Falcone, Michelle, et al.
Publicado: (2013)

Homozygous deletion of Tenascin-R in a patient with intellectual disability
por: Dufresne, David, et al.
Publicado: (2012)

Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
por: Pravata, Veronica M., et al.
Publicado: (2019)

Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability
por: Wu, Po-Ming, et al.
Publicado: (2021)

Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy
por: Guzman, Raul E., et al.
Publicado: (2022)

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
por: Czeschik, Johanna Christina, et al.
Publicado: (2013)

A novel MED12 mutation associated with non-specific X-linked intellectual disability
por: Yamamoto, Toshiyuki, et al.
Publicado: (2015)

Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability
por: Bosshard, Matthias, et al.
Publicado: (2017)

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
por: Sanchis-Juan, Alba, et al.
Publicado: (2019)

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
por: Srivastava, Siddharth, et al.
Publicado: (2019)

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability
por: Allegra, Manuela, et al.
Publicado: (2017)

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
por: Willems, Anke P., et al.
Publicado: (2017)

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability
por: Benmakhlouf, Yousra, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_rlaoog5ual147m29nta6apc6n1