Identification of novel compound heterozygous mutations in the ANTXR2 gene in a Chinese patient with juvenile hyaline fibromatosis.
- VernacularTitle:一例幼年性透明性纤维瘤病ANTXR2基因新的复合杂合突变的鉴定
- Author:
Yongling ZHANG
1
;
Ru LI
;
Yan LI
;
Can LIAO
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Female; Heterozygote; Humans; Hyalinosis, Systemic; diagnosis; genetics; Mutation; Receptors, Peptide; genetics
- From: Chinese Journal of Medical Genetics 2017;34(6):866-869
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify pathogenic mutations of ANTXR2 gene in a patient with juvenile hyaline fibromatosis.
METHODSGenomic DNA was extracted from peripheral venous blood sample from the patient. All coding exons (exons 1-17) and splicing sites of the ANTXR2 gene were amplified with PCR. Potential mutations were detected with direct sequencing of the PCR products. 100 unrelated healthy subjects were used as the controls. CLUSTALX (1.81) was employed to analyze cross-species conservation of the mutant amino acid. Impact of the mutations was analyzed with software including SIFT, PolyPhen-2 and MutationTaster.
RESULTSA compound heterozygous mutation c.1074delT/c.1153G>C, was identified, among which c.1153G>C has not been reported previously and was predicted to be probably damaging. Both mutations were not found among the 100 healthy controls.
CONCLUSIONThe patient's condition may be attributed to the compound heterozygous mutations of c.1074delT and c.1153G>C of the ANTXR2 gene. Above results has facilitated molecular diagnosis for this patient.
