Báo cáo ca bệnh: Chẩn đoán trước sinh biến thể gen ALPL gây bệnh giảm phosphat máu ở thai nhi có bất thường hệ xương=Case report: Prenatal diagnosis of ALPL gene mutations causing hypophosphatasia in a fetus with skeletal abnormalities

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Tác giả: Thị Trang Đào, Thị Quỳnh Đinh, Thị Lan Anh Lương, Văn Cảnh Ngô, Thị Hảo Nguyễn, Xuân Chung Nguyễn, Xuân Hải Tăng, Anh Tú Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Nghiên cứu y học (Đại học Y Hà Nội), 2024

Mô tả vật lý: tr.231-238

Bộ sưu tập: Metadata

ID: 244679

Thêm vào giỏ

Bệnh giảm phosphat máu (Hypophosphatasia) do biến thể gây bệnh trên gen ALPL là bệnh hiếm gặp, một số ít ca được chẩn đoán di truyền trước sinh khi siêu âm phát hiện bất thường hệ xương. Nghiên cứu mô tả trường hợp thai phụ 26 tuổi mang thai lần đầu, thai 17 tuần siêu âm phát hiện ngắn các xương dài và gập góc, giảm mật độ xương, bàn chân vẹo. Xét nghiệm giải trình tự vùng mã hoá của các gen (Exome sequencing, ES) cho mẫu ối và giải trình tự Sanger cho mẫu máu bố mẹ. Kết quả phát hiện đồng hợp tử biến thể có khả năng gây bệnh trên gen ALPL:c.707A>
G (NM_000478.6) ở thai. Bố, mẹ là người mang dị hợp tử biến thể này với thể nhẹ của bệnh giảm phosphat máu. Thai nhi với bất thường hệ xương cần lưu ý cơ chế di truyền lặn, trong đó có gen ALPL gây bệnh Hypophosphatasia. Xác định nguyên nhân di truyền ở thai nhi và phân tích tình trạng mang gen của bố mẹ giúp đánh giá rõ về nguy cơ tái mắc ở lần mang thai sau, từ đó, tư vấn các phương pháp chẩn đoán trước sinh phù hợp cho gia đình.Hypophosphatasia caused by pathogenic mutations in the ALPL gene is a rare disease
only a few cases have been genetically diagnosed prenatally with skeletal abnormalities. Our study describes a 26-year-old woman's first pregnancy. Ultrasound at 17 weeks of pregnancy found small and angulated long bones, reduced bone density, and crooked feet. Amniotic samples are tested using exome sequencing (ES), and parental blood samples are tested using Sanger sequencing. The results revealed a likely pathogenic homozygous variant in the ALPL gene:c.707A>
G (NM_000478.6) in the fetus. Both parents are heterozygous carriers of this variation and have a mild form of Hypophosphatasia. Fetuses with skeletal deformities should be concerned about recessively inherited hypophosphatasia related to the ALPL gene. We recommend to assess the genetic profile of the fetus with skeletal defects as well as the parent’s genetic status to pinpoint the root cause of the defects. Allows for a clear assessment of the recurrence risk in the future pregnancy, advising the family on appropriate prenatal diagnostic procedures.

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