Prenatal diagnosis of Gaucher disease using next-generation sequencing.
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.
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.|Chemo-Sero-Therapeutic Research Institute (KAKETSUKEN), Kumamoto, Japan.
Shinichiro
S
Yoshida
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Jun
J
Kido
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Shirou
S
Matsumoto
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Ken
K
Momosaki
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Hiroshi
H
Mitsubuchi
Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan.
Tomoyuki
T
Shimazu
Chemo-Sero-Therapeutic Research Institute (KAKETSUKEN), Kumamoto, Japan.
Keishin
K
Sugawara
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Fumio
F
Endo
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. nakamura@kumamoto-u.ac.jp.
Kimitoshi
K
Nakamura
D000328:Adult; D000483:Alleles; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000196:embryology; D005962:Glucosylceramidase / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D004247:DNA; D005962:Glucosylceramidase
Gaucher disease; long-range polymerase chain reaction; lysosomal storage disease; next-generation sequencing; prenatal diagnosis