Cargando…

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Prolyl endopeptidase-like (PREPL) deficiency (MIM 616224) is a very rare congenital disorder characterized by neonatal hypotonia and feeding difficulties, ptosis, neuromuscular symptoms, cognitive impairments, growth hormone deficiency, short stature, and hypergonadotropic hypogonadism. This syndrom...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yang, Qi, Hua, Rong, Qian, Jiale, Yi, Shang, Shen, Fei, Zhang, Qiang, Li, Mengting, Yi, Sheng, Luo, Jingsi, Fan, Xin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078161/ https://www.ncbi.nlm.nih.gov/pubmed/32218803 http://dx.doi.org/10.3389/fgene.2020.00198

Ejemplares similares

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
por: Zhang, Ping, et al.
Publicado: (2020)

Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice
por: Lone, Anna Mari, et al.
Publicado: (2014)

Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair
por: Huang, Chien-Chang, et al.
Publicado: (2009)

Congenital Absence of the Uterus
por: Krishnaswami, C. V.
Publicado: (1949)

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome
por: Salpietro, Vincenzo, et al.
Publicado: (2017)

A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome
por: Chan, Cassie, et al.
Publicado: (2023)

Congenital Absence of Uterus and Vagina
por: Hamilton, A. F.
Publicado: (1910)

Congenital myasthenic syndromes
por: Finsterer, Josef
Publicado: (2019)

Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia
por: Alzahrani, Ali Yahya B, et al.
Publicado: (2023)

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
por: Almatrafi, Ahmad M., et al.
Publicado: (2023)

On a Case of Congenital Absence of the Uterus and Vagina
por: Reid, William L.
Publicado: (1882)

Congenital Bilateral Absence of the Vas Deferens
por: Cai, Zhonglin, et al.
Publicado: (2022)

Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review
por: Szeto, Chun Ho, et al.
Publicado: (2023)

Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3
por: Yang, Li, et al.
Publicado: (2018)

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report
por: Al-Sharif, Fawzia, et al.
Publicado: (2022)

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
por: Belaya, Katsiaryna, et al.
Publicado: (2015)

Bilateral congenital absence of flexor pollicis longus with thumb hypoplasia and thenar atrophy
por: Chaudhary, Vikas, et al.
Publicado: (2014)

ODP400 A Mutation in the Gonadotropin Releasing Hormone Receptor Associated with Congenital Hypogonadotropic Hypogonadism with Absence of Uterus and Ovaries
por: Alabi, Omolabake, et al.
Publicado: (2022)

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis
por: Lan, Yueyun, et al.
Publicado: (2021)

Homozygous Phosphatidylinositol Glycan Class T Mutation in an Indian Girl With Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
por: Sai Chandar, Dudipala, et al.
Publicado: (2021)

Absence of Uterus
por: Gupta, Hari Ch.
Publicado: (1914)

Alternative Splicing Dynamics of the Hypothalamus–Pituitary–Ovary Axis During Pubertal Transition in Gilts
por: Pan, Xiangchun, et al.
Publicado: (2021)

Identification and characterization of a novel homozygous splice site variant of PATL2 causing female infertility due to oocyte germinal vesicle arrest
por: Sun, Liwei, et al.
Publicado: (2022)

Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia
por: Kerr, Alicia, et al.
Publicado: (2019)

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly
por: Wang, Tao, et al.
Publicado: (2021)

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement
por: Jiang, Yi, et al.
Publicado: (2021)

CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family
por: Ghouchanatigh, Mahdieh Daliri, et al.
Publicado: (2021)

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome
por: Qin, Zailong, et al.
Publicado: (2020)

Entire Absence of the Uterus
por: da Costa, A. F. W.
Publicado: (1935)

Case of Absence of Uterus
por: Chowdry, B. K.
Publicado: (1914)

On Absence of the Uterus and Vagina
Publicado: (1866)

Case of Absence of the Uterus
por: Crawford, Geo. Smith
Publicado: (1850)

Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations
por: Fang, Jianzheng, et al.
Publicado: (2022)

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness
por: Evangelista, Teresinha, et al.
Publicado: (2015)

Muscle magnetic resonance imaging in congenital myasthenic syndromes
por: Finlayson, Sarah, et al.
Publicado: (2016)

Congenital Myasthenic Syndrome in a Mixed Breed Dog
por: Blakey, Theresa J., et al.
Publicado: (2017)

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes
por: Rodríguez Cruz, Pedro M., et al.
Publicado: (2018)

Congenital myasthenic syndrome in China: genetic and myopathological characterization
por: Zhao, Yawen, et al.
Publicado: (2021)

NMJ-related diseases beyond the congenital myasthenic syndromes
por: Navarro-Martínez, Alejandra, et al.
Publicado: (2023)

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
por: Liao, Xufeng, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_c9act5in48qmbsoko5oi75e0rn