Cargando…

Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report

BACKGROUND: The DYNC1H1 gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ding, Feng-Juan, Lyu, Gui-Zhen, Zhang, Victor Wei, Jin, Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567516/ https://www.ncbi.nlm.nih.gov/pubmed/34786417 http://dx.doi.org/10.12998/wjcc.v9.i30.9302

Ejemplares similares

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations
por: Su, Tangfeng, et al.
Publicado: (2022)

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
por: Mei, Yazhao, et al.
Publicado: (2023)

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations
por: Li, Jia-Tong, et al.
Publicado: (2022)

Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects
por: Qiu, Hantian, et al.
Publicado: (2022)

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay
por: Muffels, Irena J J, et al.
Publicado: (2021)

Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness
por: Jin, Danni, et al.
Publicado: (2022)

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance
por: Niu, Qi, et al.
Publicado: (2015)

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
por: Taylor, S. Paige, et al.
Publicado: (2015)

Macrocephaly and developmental delay caused by missense variants in RAB5C
por: Koop, Klaas, et al.
Publicado: (2023)

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia
por: Hedberg-Oldfors, Carola, et al.
Publicado: (2023)

Identification of a de novo DYNC1H1 mutation via WES according to published guidelines
por: Ding, Dongxue, et al.
Publicado: (2016)

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
por: Alhamoudi, Kheloud M., et al.
Publicado: (2020)

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
por: Kessler, Kristin, et al.
Publicado: (2015)

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
por: Lin, Zhongdong, et al.
Publicado: (2017)

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
por: Ueno, Yuichi, et al.
Publicado: (2019)

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
por: Popp, Bernt, et al.
Publicado: (2015)

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
por: Vig, Anjali, et al.
Publicado: (2020)

Psychomotor developmental delay and epilepsy in an offspring of father–daughter incest: quantification of the causality probability
por: ten Kate, Leo P.
Publicado: (2009)

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia
por: Ergoren, Mahmut C., et al.
Publicado: (2021)

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum
por: Chung, Chi-Ting, et al.
Publicado: (2022)

A recurrent de novo missense mutation in UBTF causes developmental neuroregression
por: Toro, Camilo, et al.
Publicado: (2018)

A recurrent de novo missense mutation in UBTF causes developmental neuroregression
por: Toro, Camilo, et al.
Publicado: (2018)

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract
por: Hertecant, Jozef, et al.
Publicado: (2016)

A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1
por: Chen, Xiping, et al.
Publicado: (2020)

Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
por: Zhang, Xinyue, et al.
Publicado: (2020)

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
por: Moskowitz, Abby M., et al.
Publicado: (2016)

A developmental delay linked missense mutation in Kalirin-7 disrupts protein function and neuronal morphology
por: Parnell, Euan, et al.
Publicado: (2022)

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient
por: Gelineau-Morel, Rose, et al.
Publicado: (2016)

De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
por: Yang, Haipo, et al.
Publicado: (2021)

Primary growth hormone insensitivity and psychomotor delay
por: Castilla‐Cortazar, Inma, et al.
Publicado: (2018)

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy
por: Arts, H, et al.
Publicado: (2012)

AvrRpm1 Missense Mutations Weakly Activate RPS2-Mediated Immune Response in Arabidopsis thaliana
por: Cherkis, Karen A., et al.
Publicado: (2012)

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy
por: Berecki, Géza, et al.
Publicado: (2020)

Effect of conditional deletion of cytoplasmic dynein heavy chain DYNC1H1 on postnatal photoreceptors
por: Dahl, Tiffanie M., et al.
Publicado: (2021)

Dync1li1 is required for the survival of mammalian cochlear hair cells by regulating the transportation of autophagosomes
por: Zhang, Yuan, et al.
Publicado: (2022)

A case report of de novo missense FOXP1 mutation in a non-Caucasian patient with global developmental delay and severe speech impairment
por: Song, Hao, et al.
Publicado: (2015)

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
por: Andreoletti, Gaia, et al.
Publicado: (2017)

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster
por: Jangam, Sharayu, et al.
Publicado: (2023)

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
por: Yahia, Ashraf, et al.
Publicado: (2021)

Unfolding of Novel Independent Missense Mutations in VAMP2 and AGRN and Their Collective Role in Global Developmental Delay: A Case Report
por: Heidarpour, Negar, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_2s8bmhqr8l3b1vv7d91jbapnd7