Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency.
- Author:
Zhanling CHEN
1
;
Pengqiang WEN
;
Guobing WANG
;
Xiaohong LIU
;
Li CHEN
;
Shuli CHEN
;
Lisheng WAN
;
Dong CUI
;
Yue SHANG
;
Chengrong LI
Author Information
- Publication Type:Case Reports
- MeSH: Age of Onset; Amino Acid Sequence; Base Sequence; Child; Humans; Infant; Male; Molecular Sequence Data; Mutation; Ornithine Carbamoyltransferase; genetics; Ornithine Carbamoyltransferase Deficiency Disease; epidemiology; genetics; Sequence Analysis, DNA; Sequence Homology, Amino Acid
- From: Chinese Journal of Medical Genetics 2014;31(5):565-569
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250).
METHODSGenomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.
RESULTSBased on DNA sequence analysis, all of the three patients have carried OTC gene mutations. Patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). A novel mutation c.800G> C(p.S267T) were confirmed in patient 3.
CONCLUSIONp.S267T mutation has affected the conserved amino acid motif of the OTC protein, and is therefore a pathogenic mutation.
