Cargando…

The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)

The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel de novo l...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dawidziuk, Mateusz, Kutkowska-Kaźmierczak, Anna, Gawliński, Paweł, Wiszniewski, Wojciech, Gos, Monika, Stawiński, Piotr, Rydzanicz, Małgorzata, Kosińska, Joanna, Własienko, Paweł, Malinowska Kordowska, Olga, Bartnik-Głaska, Magdalena, Bernaciak, Joanna, Szczałuba, Krzysztof, Bekiesińska-Figatowska, Monika, Płoski, Rafał, Bal, Jerzy, Olimpia Rzońca-Niewczas, Sylwia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2021
Materias:	Review Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8258838/ https://www.ncbi.nlm.nih.gov/pubmed/33930262 http://dx.doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003

Ejemplares similares

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
por: Slezak, Ryszard, et al.
Publicado: (2021)

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
por: Dawidziuk, Mateusz, et al.
Publicado: (2022)

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism
por: Dawidziuk, Mateusz, et al.
Publicado: (2023)

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability
por: Rzońca-Niewczas, Sylwia, et al.
Publicado: (2021)

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
por: Szczałuba, Krzysztof, et al.
Publicado: (2020)

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
por: Szczałuba, Krzysztof, et al.
Publicado: (2021)

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
por: Oswiecimska, Joanna, et al.
Publicado: (2019)

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene
por: Slezak, Ryszard, et al.
Publicado: (2020)

On Unwarranted Performance of MRI Scans
por: Bekiesińska-Figatowska, Monika
Publicado: (2014)

Magnetic resonance imaging of the female pelvis after Cesarean section: a pictorial review
por: Bekiesinska-Figatowska, Monika
Publicado: (2020)

Opinion on “The role of radiologist in the changing world of healthcare: a White Paper of the European Society of Radiology (ESR)”
por: Bekiesińska-Figatowska, Monika
Publicado: (2023)

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
por: Kowalczyk, Katarzyna, et al.
Publicado: (2021)

Destabilization of mutated human PUS3 protein causes intellectual disability
por: Lin, Ting‐Yu, et al.
Publicado: (2022)

Congenital and Acquired Abnormalities of the Corpus Callosum: A Pictorial Essay
por: Krupa, Katarzyna, et al.
Publicado: (2013)

Artifacts in Magnetic Resonance Imaging
por: Krupa, Katarzyna, et al.
Publicado: (2015)

Magnetic resonance imaging of neonates in the magnetic resonance compatible incubator
por: Bekiesińska-Figatowska, Monika, et al.
Publicado: (2016)

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
por: Pollak, Agnieszka, et al.
Publicado: (2017)

Giant Congenital Melanocytic Nevi: Selected Aspects of Diagnostics and Treatment
por: Sawicka, Ewa, et al.
Publicado: (2015)

MRI patterns of hypoxic-ischemic brain injury in preterm and full term infants – classical and less common MR findings
por: Cabaj, Astra, et al.
Publicado: (2012)

Recommendations regarding imaging of the central nervous system in fetuses and neonates
por: Helwich, Ewa, et al.
Publicado: (2014)

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability
por: Bartnik, Magdalena, et al.
Publicado: (2013)

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report
por: Bekiesinska-Figatowska, Monika, et al.
Publicado: (2021)

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
por: Franaszczyk, Maria, et al.
Publicado: (2020)

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
por: Rydzanicz, Małgorzata, et al.
Publicado: (2020)

Treatment of Cutaneous Melanoma Harboring SMO p.Gln216Arg Mutation with Imiquimod: An Old Drug with New Results
por: Troiani, Teresa, et al.
Publicado: (2021)

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay
por: Ścieżyńska, Aneta, et al.
Publicado: (2017)

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
por: Kutkowska-Kaźmierczak, Anna, et al.
Publicado: (2021)

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
por: Smigiel, Robert, et al.
Publicado: (2018)

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes
por: Wolańska, Ewelina, et al.
Publicado: (2021)

A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
por: Bernaciak, Joanna, et al.
Publicado: (2017)

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
por: Pronicka, Ewa, et al.
Publicado: (2016)

Lesions in basal ganglia in a patient with involuntary movements as a first sign of diabetes – case report and review of the literature
por: Bekiesińska-Figatowska, Monika, et al.
Publicado: (2010)

Trichobezoar, Rapunzel Syndrome, Tricho-Plaster Bezoar – A Report of Three Cases
por: Czerwińska, Katarzyna, et al.
Publicado: (2015)

Clinically Unjustified Diagnostic Imaging – a Worrisome Tendency in Today’s Medical Practice
por: Sobiecka, Aleksandra, et al.
Publicado: (2016)

Zespół łamliwego Chromosomu x i Choroby FMR1-zależne - Objawy Kliniczne, Epidemiologia i Podłoże Molekularne Choroby
por: Landowska, Aleksandra, et al.
Publicado: (2018)

Zespół łamliwego Chromosomu X i Choroby FMR1-zależne - Postępowanie Diagnostyczne Na Podstawie Doświadczeń własnych
por: Landowska, Aleksandra, et al.
Publicado: (2018)

PGLN: A newly identified amino phosphoglycolipid species in Thermus thermophilus HB8
por: Nemoto, Naoki, et al.
Publicado: (2022)

Application of next-generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss
por: Lechowicz, Urszula, et al.
Publicado: (2018)

Rhombencephalosynapsis – isolated anomaly or complex malformation?
por: Bekiesińska-Figatowska, Monika, et al.
Publicado: (2012)

Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene
por: Monasky, Michelle M., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_qphaoimj2tbbu1r662o1qr6om2