Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
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ABSTRACT:
SUBMITTER: Quitmann CM
PROVIDER: S-EPMC8370890 | biostudies-literature | 2021 Jan-Dec
REPOSITORIES: biostudies-literature
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Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
Quitmann Christina M CM Rust Stephan S Reunert Janine J Biskup Saskia S Fiedler Barbara B Marquardt Thorsten T
Child neurology open 20210101
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 ...[more]
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