PMID: 22339828Feb 22, 2012Paper

Dyskeratosis congenital: clinical features and genotype analysis in two Chinese patients

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
Rong LiuShi-ang Huang

Abstract

To analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC). The 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. An 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. We 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.

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