Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports.

ABSTRACT:

Rationale

Neurofibromatosis, including type 1 and type 2, is inherited dominant disease that causes serious consequences. The genetic mechanism of these diseases has been described, but germline mutation of checkpoint 2 kinase gene, together with other DNA repair related genes, has not been fully elucidated in the context of neurofibromatosis.

Patient concerns

In this article, we reported identical germline mutation of CHEK2 gene (p.R180C) in a 7-year-old Tibetan boy with NF1, and in a 12-year-old Chinese girl with NF2.

Diagnoses

Neurofibromatosis 1 and 2 with CHECK2 gene germline mutation.

Interventions

Both patients underwent operation to obtain tumor tissue, and peripheral blood of their family was tested.

Outcomes

Identical germline mutation of CHEK2

SUBMITTER: Li Q 

PROVIDER: S-EPMC5999503 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature