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©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report
Jaime Toral-Lopez, Luz María González Huerta, Olga Messina-Baas, Sergio A Cuevas-Covarrubias
Jaime Toral-Lopez, Departamento de Genética Medica, Centro Medico Ecatepec, ISSEMYM, Ecatepec 55000, México
Jaime Toral-Lopez, Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud/Hospital Infantil de México, Universidad Nacional Autónoma de México, México 06720, México
Luz María González Huerta, Departamento de Biología Molecular, Hospital General de México, Cuauhtémoc 06720, México
Olga Messina-Baas, Departamento de Oftalmología, Hospital General de México, Cuauhtémoc 06720, México
Sergio A Cuevas-Covarrubias, Genetica, Hospital General de México, Cuauhtémoc 06726, Mexico
Sergio A Cuevas-Covarrubias, Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México 06720, Mexico
Author contributions: Toral-Lopez J was the patient’s geneticist doctor, reviewed the literature, designed the study and contributed to manuscript drafting; Gonzalez-Huerta LM, analyzed and interpreted the molecular karyotyping and contributed to manuscript drafting; Messina Baas O performed the ophthalmologist analyses and contributed to manuscript drafting and Cuevas Covarrubias SA was responsible for the revision of the manuscript for final edition; all authors read and approved the final manuscript.
Supported by PAEP, 2018 and PAPIIT IN219419, DGAPA, Universidad Nacional Autónoma de México, No. IN219419.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
http://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Sergio A Cuevas-Covarrubias, PhD, Doctor, Professor, Genetica, Hospital General de México, Dr Balmis 148, Cuauhtémoc 06720, México. sercuevas@yahoo.com
Received: July 13, 2020
Peer-review started: July 13, 2020
First decision: August 8, 2020
Revised: September 8, 2020
Accepted: September 18, 2020
Article in press: September 18, 2020
Published online: November 6, 2020
BACKGROUND
We described the main features of an infant diagnosed with facial dysmorphic, language failure, intellectual disability and congenital malformations to strengthen our understanding of the disease. Currently, treatment is only rehabilitation and surgery for cleft lip and palate.
CASE SUMMARY
The proband was a 2-years-8-months-old girl. Familial history was negative for congenital malformations or intellectual disability. The patient had microcephaly, upward-slanting palpebral fissures, depressed nasal bridge, bulbous nose and bilateral cleft lip and palate. Brain magnetic resonance imaging showed cortical atrophy and band heterotopia. Her motor and intellectual development is delayed. A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene (ELP4) and a loss of heterozygosity in Xq25-q26.3 were detected.
CONCLUSION
There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 deletion. We describe a second case of deletion of the ELP4 gene without aniridia, which confirms the association between ELP4 gene with several defects and absence of this ocular defect. Additional clinical data in the deletion of the ELP4 gene as cleft palate, facial dysmorphism, and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.
Core Tip: We report a case diagnosed with submicroscopic 11p13 deletion. The main clinical characteristics and elongator acetyltransferase complex subunit 4 gene deletion, and treatments were assessed and a review of the related literature was performed. Very important, this is the second case of deletion of the elongator acetyltransferase complex subunit 4 gene without aniridia.
