Novel germline mutation KMT2A G3131S confers genetic susceptibility to familial myeloproliferative neoplasms.

doi:10.1007/s00277-021-04562-4

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Article

Novel germline mutation KMT2A G3131S confers genetic susceptibility to familial myeloproliferative neoplasms.

Annals of hematology - 1 Sept 2021

Yin Le, Xie Sisi, Chen Yi, Li Wang, Jiang Xian, Li Heng, Li Ji, Wu Zefang, Xiao Xiang, Zhang Guangsen, Cheng Zhao, Peng Hongling

Abstract excerpt

The current study analyzed the clinical and genetic characteristics of a family with familial myeloproliferative neoplasms (MPNs). Whole-exome sequencing was conducted, and a germline heterozygous mutation in lysine methyltransferase 2A (KMT2A, also known as MLL1), G3131S (c.9391G > A, p.Gly3131Ser, rs150804738), was identified. Somatic DNA and germline DNA were collected from 8 family members, 120 healthy donors...

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PMID: 34228147
DOI: 10.1007/s00277-021-04562-4

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