Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing

Two siblings with an early onset of a neurodegenerative disease were presented with muscular hypotonia, secondary microcephaly, and severe developmental delay. Seizures were refractory to treatment but could be controlled with a ketogenic diet. Over the course of 5 years, whole exome sequencing (WES...

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Autores principales: Quitmann, Christina M., Rust, Stephan, Reunert, Janine, Biskup, Saskia, Fiedler, Barbara, Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370890/
https://www.ncbi.nlm.nih.gov/pubmed/34423067
http://dx.doi.org/10.1177/2329048X211034969
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author Quitmann, Christina M.
Rust, Stephan
Reunert, Janine
Biskup, Saskia
Fiedler, Barbara
Marquardt, Thorsten
author_facet Quitmann, Christina M.
Rust, Stephan
Reunert, Janine
Biskup, Saskia
Fiedler, Barbara
Marquardt, Thorsten
author_sort Quitmann, Christina M.
collection PubMed
description Two siblings with an early onset of a neurodegenerative disease were presented with muscular hypotonia, secondary microcephaly, and severe developmental delay. Seizures were refractory to treatment but could be controlled with a ketogenic diet. Over the course of 5 years, whole exome sequencing (WES) was performed twice in both children. The first time the diagnosis was missed. The next one revealed compound heterozygous mutations in the gene coding for the tubulin folding cofactor D. Technical improvements in WES mandated a new investigation after a few years in children where the diagnosis has not been found.
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spelling pubmed-83708902021-08-19 Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing Quitmann, Christina M. Rust, Stephan Reunert, Janine Biskup, Saskia Fiedler, Barbara Marquardt, Thorsten Child Neurol Open Original Research Article Two siblings with an early onset of a neurodegenerative disease were presented with muscular hypotonia, secondary microcephaly, and severe developmental delay. Seizures were refractory to treatment but could be controlled with a ketogenic diet. Over the course of 5 years, whole exome sequencing (WES) was performed twice in both children. The first time the diagnosis was missed. The next one revealed compound heterozygous mutations in the gene coding for the tubulin folding cofactor D. Technical improvements in WES mandated a new investigation after a few years in children where the diagnosis has not been found. SAGE Publications 2021-08-05 /pmc/articles/PMC8370890/ /pubmed/34423067 http://dx.doi.org/10.1177/2329048X211034969 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Original Research Article
Quitmann, Christina M.
Rust, Stephan
Reunert, Janine
Biskup, Saskia
Fiedler, Barbara
Marquardt, Thorsten
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
title Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
title_full Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
title_fullStr Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
title_full_unstemmed Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
title_short Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
title_sort tubulin folding cofactor d deficiency: missing the diagnosis with whole exome sequencing
topic Original Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370890/
https://www.ncbi.nlm.nih.gov/pubmed/34423067
http://dx.doi.org/10.1177/2329048X211034969
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