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Compound heterozygous mutation in PRF1 gene in a Patient with familial hemophagocytic lymphohistiocytosis-2
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چکیده: (326 مشاهده) |
Background
Familial Hemophagocytic lymphohistiocytosis is an autosomal recessive lethal disorder caused by mutations in several genes. The immune system is overactivated in this disease and several organs such as liver and spleen are affected. Since Haematopoitic stem cell transplantation is essencial for surviving the patients with familial hemophagocytic lymphohistiocytosis, the easrly diagnosis is critical.
Objectives
The aim of this study was to determine the probable genetic cause of disease in an infant with unclear primary diagnosis and suspected to suffer from blood cancer, Hemophagocytic lymphohistiocytosis or polycyctic liver disease.
Methods
Whole exome sequencing and Sanger sequencing were used to investigate the mutation and its confirmation respectively.
Results
We found a compound heterozugous mutation in PRF1 gene including one novel nonsense and one previously reported missense mutations.
Conclusions
Due to the disease and clinical heterogeneity, next generation sequencing is the recommended method to find the disease causing mutations and confirm the disease. |
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متن کامل [PDF 493 kb]
(140 دریافت)
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نوع مطالعه: گزارش کوتاه |
موضوع مقاله:
عمومى
دریافت: 1401/8/28 | پذیرش: 1400/9/24 | انتشار: 1400/9/24
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