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Những hiểu biết mới về hội chứng Perrault, một rối loạn lâm sàng và di truyền không đồng nhất
Tóm tắt
Suy giảm thính lực và suy giảm khả năng sinh sản là những rối loạn phổ biến ở người với nhiều nguyên nhân di truyền khác nhau. Đôi khi, điếc và suy giảm khả năng sinh sản, những đặc trưng chính của hội chứng Perrault, xuất hiện đồng thời ở một người. Hội chứng Perrault di truyền theo kiểu lặn trên nhiễm sắc thể thường, đặc trưng bởi suy giảm thính lực ở trẻ em từ nhẹ đến nặng ở cả hai giới, với độ tuổi khởi phát biến đổi và rối loạn chức năng buồng trứng ở nữ giới có kiểu gen 46, XX. Kể từ khi mô tả lâm sàng đầu tiên về hội chứng Perrault cách đây 70 năm, kiểu hình của một số cá nhân có thể còn liên quan đến sự chậm phát triển, thiếu hụt trí tuệ và các khuyết tật thần kinh khác, mức độ nghiêm trọng có thể thay đổi phần nào phụ thuộc vào các biến thể di truyền và gen liên quan. Tại đây, chúng tôi tổng hợp lại di truyền phân tử và kiểu hình lâm sàng của hội chứng Perrault, đồng thời tập trung vào những bằng chứng hỗ trợ cho tám gen (CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, RMND1, TWNK) liên quan đến hội chứng này. Các biến thể của tám gen này chỉ chiếm khoảng một nửa số cá nhân có các đặc điểm lâm sàng của hội chứng Perrault, trong khi cơ sở di truyền phân tử vẫn đang được điều tra. Những nguyên nhân môi trường bổ sung và các gen mới liên quan đến bệnh Perrault chưa được xác định vẫn cần được tìm ra để giải thích các trường hợp chưa rõ ràng. Chúng tôi cũng báo cáo một biến thể di truyền mới của CLPP, cái nhìn cấu trúc tính toán về CLPP và dữ liệu RNAseq đơn bào cho tám gen đã báo cáo về hội chứng Perrault, gợi ý một sinh lý bệnh học tế bào chung cho rối loạn này. Một số câu hỏi chưa được trả lời được đưa ra nhằm kích thích nghiên cứu khoa học trong tương lai về hội chứng Perrault.
Từ khóa
#hội chứng Perrault #di truyền phân tử #suy giảm thính lực #khả năng sinh sản #gen liên quanTài liệu tham khảo
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