Characterization of two novel FANCG mutations in Indian Fanconi anemia patients

Avani Solanki,C. Kumar Selvaa,Frenny Sheth,Nita Radhakrishnan,Manas Kalra,Babu Rao Vundinti

Leukemia Research（2017）

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摘要

•FANCG gene mutations are not reported systematically from Indian FA patients.•C.1143+5 G>C mutation of intron9 causes exon9 skipping and can hamper TPR3 motif.•C.883dupG mutation causes truncation before TPR3 motif and remainder C-terminus.•Del-ins mutation c.1471_1473delAAAinsG hampers TPR6 and the remainder C-terminus.

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关键词

Bone marrow failure,Chromosomal breakage,FANCD2 monoubiquitination,FA-G complementation group,Fanconi anemia,Direct sequencing,FANCG

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