A Genotype-first Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2010 Sep 1

PMID 20805988

Citations 10

Authors

Ryan N Traylor

Damien L Bruno

Trent Burgess

Robert Wildin

Anne Spencer

Devika Ganesamoorthy

David J Amor

Matthew Hunter

Michael Caplan

Jill A Rosenfeld

Aaron Theisen

Beth S Torchia

Lisa G Shaffer

Blake C Ballif

Howard R Slater

Affiliations

Soon will be listed here.

Abstract

Background: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.

Methodology/principal Findings: We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.

Conclusions/significance: Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.

Citing Articles

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.

Zhuang J, Zhang N, Wang J, Jiang Y, Zhang H, Chen C Mol Genet Genomic Med. 2024; 12(4):e2429.

PMID: 38553934 PMC: 10980884. DOI: 10.1002/mgg3.2429.

Clinical Study of 30 Novel Variants/Deletions in -Related Disorders.

Xiao T, Chen X, Xu Y, Chen H, Dong X, Yang L Front Mol Neurosci. 2022; 15:809810.

PMID: 35557555 PMC: 9088225. DOI: 10.3389/fnmol.2022.809810.

Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).

Urel-Demir G, Akgun-Dogan O, Oguz S, Guleray-Lafci N, Simsek-Kiper P, Utine G Mol Syndromol. 2020; 11(1):38-42.

PMID: 32256300 PMC: 7109379. DOI: 10.1159/000505141.

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.

Correa T, Venancio A, Galera M, Riegel M Case Rep Genet. 2020; 2020:5957415.

PMID: 32082653 PMC: 6995492. DOI: 10.1155/2020/5957415.

Dido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice.

Villares R, Gutierrez J, Futterer A, Trachana V, Gutierrez del Burgo F, Martinez-A C Proc Natl Acad Sci U S A. 2015; 112(15):4803-8.

PMID: 25825751 PMC: 4403199. DOI: 10.1073/pnas.1419300112.

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