Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics
Sara M BlazejewskiKazuhito Toyo-Oka

Abstract

Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are associated with a smooth cerebral cortex, or lissencephaly, which leads to developmental delay, intellectual disability, and seizures. However, patients with MDS have larger deletions than patients with ILS, resulting in additional symptoms such as poor muscle tone, congenital anomalies, abnormal spasticity, and craniofacial dysmorphisms. In contrast to microdeletions in 17p13.3, recent studies have attracted considerable attention to a condition known as a 17p13.3 microduplication syndrome. Depending on the genes involved in their microduplication, patients with 17p13.3 microduplication syndrome may be categorized into either class I or class II. Individuals in class I have microduplications of the YWHAE gene encoding 14-3-3ε, as well as other genes in the region. However, the PAFAH1B1 gene encoding LIS1 is never duplicated in these patients. Class I microduplications generally res...Continue Reading

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Citations

Aug 8, 2019·Physiology·Jason W AdamsAlysson R Muotri
Dec 19, 2018·Epigenetics Insights·Aatira VijayMohammad Zahid Ashraf
Feb 8, 2020·BMC Medical Genetics·Meriam Hadj AmorSoumaya Mougou-Zerelli
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Oct 8, 2020·Annals of Human Genetics·Xiaomei ShiJing Wu
Feb 23, 2021·Human Brain Mapping·Ida E SønderbyUNKNOWN ENIGMA 22q11.2 Deletion Syndrome Working Group
Jun 25, 2021·Frontiers in Neurology·Xianyu LiuJing Chen

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Methods Mentioned

BETA
MDS
chromosomal aberrations
transgenic
genotyping

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