Prenatal diagnosis of Gaucher disease using next‐generation sequencing. Issue 9 (29th September 2016)

• Record Type: Journal Article
• Authors: Yoshida, Shinichiro; Kido, Jun; Matsumoto, Shirou; Momosaki, Ken; Mitsubuchi, Hiroshi; Shimazu, Tomoyuki; Sugawara, Keishin; Endo, Fumio; Nakamura, Kimitoshi
• Is Part Of: Pediatrics international. Volume 58:Issue 9(2016)
• Page Start: 946
• Page End: 949
• Publication Date: 2016-09-29
• Subjects: Gaucher disease -- long‐range polymerase chain reaction -- lysosomal storage disease -- next‐generation sequencing -- prenatal diagnosis; Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.13069
• Languages: English
• ISSNs: 1328-8067

Abstract

Abstract: In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next‐generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[‐20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD‐related mutations. NGS may facilitate early detection and treatment before disease onset.