Kurnikova Maria, Shagina Irina, Khachatryan Lilia, Schagina Olga, Maschan Mikchail, Shagin Dmitriy
Evrogen Joint Stock Company, Moscow, Russia.
Pediatr Blood Cancer. 2009 Jan;52(1):135-7. doi: 10.1002/pbc.21733.
Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancy. DC is genetically heterogeneous and X-linked and autosomal forms of the disease exist. Here, we report the clinical description and mutation analysis of a Russian family with X-linked DC. A novel mutation in DKC1 raised de novo in the maternal grandmother's gamete was found; this mutation is a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser).
先天性角化不良（DC）是一种罕见的先天性综合征，其特征为网状皮肤色素沉着、指甲营养不良和黏膜白斑三联征，以及易患骨髓衰竭和恶性肿瘤。DC具有遗传异质性，存在X连锁和常染色体形式的疾病。在此，我们报告一个患有X连锁DC的俄罗斯家族的临床描述和突变分析。发现DKC1基因中的一个新突变在祖母的配子中新生突变产生；该突变是外显子3中的2bp倒位：NM_001363:c.166_167invCT（Leu56Ser）。
