Prenatal diagnosis of Gaucher disease using next‐generation sequencing |
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| Authors: | Shinichiro Yoshida Jun Kido Shirou Matsumoto Ken Momosaki Hiroshi Mitsubuchi Tomoyuki Shimazu Keishin Sugawara Fumio Endo Kimitoshi Nakamura |
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| Affiliation: | 1. Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan;2. Chemo‐Sero‐Therapeutic Research Institute (KAKETSUKEN), Kumamoto, Japan;3. Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan |
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| 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. |
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| Keywords: | Gaucher disease long‐range polymerase chain reaction lysosomal storage disease next‐generation sequencing prenatal diagnosis |
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