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DOI: 10.4103/ijmbs.ijmbs_61_19
“Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy” with a novel mutation
“Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy” is a newly described disorder related to homozygous mutations in TRAPPC6B gene. Although nonspecific, the features of this disorder appear to have a characteristic course of postnatal progressive microcephaly that should raise the suspicion of this disorder. To the best of our knowledge, only eight cases were published in the literature. Here, we report a new case with a novel mutation and compare the clinical findings to the published cases. This case was not picked up by whole-exome sequencing but rather by whole-genome sequencing, emphasizing the importance of pursuing an etiological diagnosis in patients with otherwise unexplained progressive neurological disorders.
Financial support and sponsorship
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Publication History
Received: 28 September 2019
Accepted: 25 November 2019
Article published online:
07 July 2022
© 2019. The Libyan Authority of Scientific Research and Technologyand the Libyan Biotechnology Research Center. All rights reserved. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License,permitting copying and reproductionso long as the original work is given appropriate credit. Contents may not be used for commercial purposes, oradapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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