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

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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Bibliographic Details
Main Authors: Christina M. Quitmann, Stephan Rust Dr. rer. nat., Janine Reunert Dr., Saskia Biskup Dr. med. Dr. rer. nat., Barbara Fiedler Dr. med., Thorsten Marquardt Dr. med.
Format: Article
Language:English
Published: SAGE Publishing 2021-07-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X211034969
Description
Summary: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.
ISSN:2329-048X

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