Dyskeratosis congenital: clinical features and genotype analysis in two Chinese patients.
- Author:
Rong LIU
1
;
Xiao-dong SHI
;
Tian-you WANG
;
Zi-qin LIU
;
Tao HU
;
Wei FAN
;
Jing CAO
;
Ran HOU
;
Chao LIANG
;
Shi-ang HUANG
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Child, Preschool; DNA Mutational Analysis; Dyskeratosis Congenita; diagnosis; genetics; Exons; Female; Humans; Infant; Male; Telomere-Binding Proteins; genetics
- From: Chinese Journal of Hematology 2011;32(10):684-687
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC).
METHODSThe two patients were characterized by mucocutaneous abnormalities (abnormal nails, lacey reticular pigmentation, and oral leukoplakia), bone marrow failure. They were diagnosed with DC. DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons.
RESULTSAn abnormal peak was found in exon 6 of TINF2 gene of the two patients. DNA sequencing showed a 845G→A transition in TINF2 gene in the two patients.
CONCLUSIONWe should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. TINF2 c.845G→A(R282H) does exist in the two patients. It is reported in China for the first time.
