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  

作　　者：Jaime Toral-Lopez Luz María González Huerta Olga Messina-Baas Sergio A Cuevas-Covarrubias 

机构地区：[1]Departamento de Genética Medica,Centro Medico Ecatepec,ISSEMYM,Ecatepec 55000,México [2]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 [3]Departamento de Biología Molecular,Hospital General de México,Cuauhtémoc 06720,México [4]Departamento de Oftalmología,Hospital General de México,Cuauhtémoc 06720,México [5]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

出　　处：《World Journal of Clinical Cases》2020年第21期5296-5303,共8页世界临床病例杂志

基　　金：Supported by PAEP,2018 and PAPIIT IN219419,DGAPA,Universidad Nacional Autónoma de México,No.IN219419.

摘　　要：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.

关 键 词：Submicroscopic 11p13 deletion Elongator acetyltransferase complex subunit 4 gene Language failure Intellectual disability Congenital malformations Case report 

分 类 号：R725.9[医药卫生—儿科]