Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.

Hum Mutat. 2005 Jun 13;26(1):59-60 [Epub ahead of print]

 

Tang NL, Zhang W,

Grabowski

GA

, To KF, Choy FY, Ma SL, Shi HP.

Departments of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, People's Republic of China.

We investigated 10 unrelated Chinese patients with type 2 Gaucher disease and performed ex vivo expression for the novel mutations to characterize their functional defects. These patients were diagnosed by enzymatic assays and clinicopathologic features over the past five years in a national centre in

China

. Genomic DNA was sequenced by a two-stage PCR approach for mutations in the functional GBA gene. Novel mutations were expressed with baculovirus-transfected Sf21 cells. Six novel mutations were found (in traditional nomenclature): P122L, Y363C, N382K, L383R, L385P, and M416V. Review of reported mutations indicated clustering of type 2 mutations in three regions of the GBA gene. Expression of novel mutations revealed that the enzyme defect could arise from one of two mechanisms: loss of catalytic activity (Y363C and M416V) or enzyme instability (P122L and N382K). (c) 2005 Wiley-Liss, Inc.

PMID: 15954102 [PubMed - as supplied by publisher]

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