De novo mutation in

Acanthosis Nigricans / diagnosis Adolescent Amino Acid Sequence Biomarkers Biopsy Child, Preschool Deafness / diagnosis Demyelinating Diseases / diagnosis Fatty Acid Elongases / genetics Female Fibroblasts / metabolism Gene Expression Genetic Predisposition to Disease Genotype Humans Ichthyosis / diagnosis Magnetic Resonance Imaging Male Mutation Optic Atrophy / diagnosis Paraplegia / diagnosis Pedigree Peroxisome Proliferator-Activated Receptors / metabolism Phenotype Exome Sequencing
fatty acid synthesis hypomyelination ichthyosis very long-chain fatty acids

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
03 2019
Historique:
received: 30 08 2018
revised: 07 11 2018
accepted: 13 11 2018
pubmed: 30 11 2018
medline: 15 5 2020
entrez: 30 11 2018
Statut: ppublish

Résumé

Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominant We did mutation screening by whole exome sequencing. RNA-sequencing was performed in patient and control fibroblasts. Ceramide and sphingomyelin levels were measured by LC-MS/MS. ELOVL1 activity was determined by a stable isotope-labelled [ Both patients carried an identical heterozygous A dominant

Sections du résumé

BACKGROUND
Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominant
METHODS
We did mutation screening by whole exome sequencing. RNA-sequencing was performed in patient and control fibroblasts. Ceramide and sphingomyelin levels were measured by LC-MS/MS. ELOVL1 activity was determined by a stable isotope-labelled [
RESULTS
Both patients carried an identical heterozygous
CONCLUSION
A dominant

Identifiants

DOI: 10.1136/jmedgenet-2018-105711 PMID: 30487246
pubmed: 30487246
pii: jmedgenet-2018-105711
doi: 10.1136/jmedgenet-2018-105711
doi:

Substances chimiques

Biomarkers 0
ELOVL1 protein, human 0
Peroxisome Proliferator-Activated Receptors 0
Fatty Acid Elongases EC 2.3.1.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

164-175

Informations de copyright

© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Noomi Mueller (N)

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Takayuki Sassa (T)

Faculty of Pharmaceutical Sciences, Laboratory of Biochemistry, Hokkaido University, Sapporo, Japan.

Susanne Morales-Gonzalez (S)

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Joanna Schneider (J)

Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Berlin Institute of Health, Berlin, Germany.

Daniel J Salchow (DJ)

Department of Ophthalmology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Dominik Seelow (D)

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Berlin Institute of Health, Berlin, Germany.

Ellen Knierim (E)

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Werner Stenzel (W)

Institute of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Akio Kihara (A)

Faculty of Pharmaceutical Sciences, Laboratory of Biochemistry, Hokkaido University, Sapporo, Japan.

Markus Schuelke (M)

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
ORCID: 0000-0003-2824-3891

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Hyperpigmentation › Mélanose › Acanthosis nigricans › De novo mutation in
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › De novo mutation in
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence d'acides aminés › De novo mutation in
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › De novo mutation in
questionsmedicales.fr › Techniques d'investigation › Techniques cytologiques › Cytodiagnostic › Biopsie › De novo mutation in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › De novo mutation in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de l'audition › Perte d'audition › Surdité › De novo mutation in
questionsmedicales.fr › Maladies du système nerveux › Maladies démyélinisantes › De novo mutation in
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Acyltransferases › Acetyltransferases › Fatty acid elongases › De novo mutation in
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › De novo mutation in
questionsmedicales.fr › Phénomènes génétiques › Expression des gènes › De novo mutation in
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › De novo mutation in
questionsmedicales.fr › Phénomènes génétiques › Génotype › De novo mutation in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › De novo mutation in
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Malformations cutanées › Ichtyose › De novo mutation in
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › De novo mutation in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › De novo mutation in
questionsmedicales.fr › Maladies de l'oeil › Atteintes du nerf optique › Atrophie optique › De novo mutation in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Paraplégie › De novo mutation in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › De novo mutation in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Récepteurs activés par les proliférateurs de peroxysomes › De novo mutation in
questionsmedicales.fr › Phénomènes génétiques › Phénotype › De novo mutation in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › De novo mutation in