%0 Case Reports
%T Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report.
%A Wang LP
%A Luo HZ
%A Song M
%A Yang ZZ
%A Yang F
%A Cao YT
%A Chen J
%A Wang LP
%A Luo HZ
%A Song M
%A Yang ZZ
%A Yang F
%A Cao YT
%A Chen J
%J World J Clin Cases
%V 10
%N 4
%D Feb 2022 6
%M 35211578
%F 1.534
%R 10.12998/wjcc.v10.i4.1417
%X <B>BACKGROUND: </B>Ornithine transcarbamylase deficiency (OTCD) is a common ornithine cycle disorder, and OTC gene variation is the main pathogenic factor of this disease. This study explored and validated a variant in the OTC gene.<BR><B>METHODS: </B>The neonate exhibited high blood ammonia, lactic acid, and homocysteine levels on the fifth day after birth. A novel deletion variant in the OTC gene [NM_000531.5, c.970_979delTTCCCAGAGG, p.Phe324GlnfsTer16] was uncovered by exome sequencing. The variant caused a protein-coding frameshift and resulted in early translation termination at the 16th amino acid after the variant site.<BR><B>CONCLUSIONS: </B>Our results provide a novel pathogenic variant in OTC and related clinical features for further OTCD screening and clinical consultation.