Medicine · 2024
NBEAL2 gene mutations do not always lead to gray platelet syndrome: A case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Chen Bing, Kong Wanzhong, Liu Jinlin, Zhang Junwu
Аннотация
RATIONALE: Gray platelet syndrome (GPS) is a rare disease caused by homozygosity and compound heterozygosity for autosomal mutations on the NBEAL2 gene, which is characterized by a deficiency of platelet α-granules, bleeding symptoms. However, in this study, we report 2 NBEAL2 gene mutations in an easy bruising family without gray platelet and bleeding.
PATIENT CONCERNS: A 33-year-old female nurse sought admission to our laboratory due to a tendency to bruise easily and unwell in daily life. However, there are no signs of petechiae or excessive bleeding in her daily life. Coagulation tests, routine blood tests and platelet staining of blood smears were all normal.
INTERVENTIONS: The whole exome sequencing and Sanger sequencing were used to identify the causative variant of the patient. Furthermore, the morphology of platelets was examined using electron microscopy.
DIAGNOSIS AND OUTCOMES: Whole exome sequencing revealed the presence of 2 mutations in the NBEAL2 gene: p.Thr365fs and p.Ala310Thr. This prompted the consideration of a GPS diagnosis. However, platelet electron microscopy did not identify any abnormalities, leading to the exclusion of GPS.
LESSONS: These 2 NBEAL2 gene mutations (p.Thr365fs and p.Ala310Thr mutations) do not affect the degranulation of platelets.
PATIENT CONCERNS: A 33-year-old female nurse sought admission to our laboratory due to a tendency to bruise easily and unwell in daily life. However, there are no signs of petechiae or excessive bleeding in her daily life. Coagulation tests, routine blood tests and platelet staining of blood smears were all normal.
INTERVENTIONS: The whole exome sequencing and Sanger sequencing were used to identify the causative variant of the patient. Furthermore, the morphology of platelets was examined using electron microscopy.
DIAGNOSIS AND OUTCOMES: Whole exome sequencing revealed the presence of 2 mutations in the NBEAL2 gene: p.Thr365fs and p.Ala310Thr. This prompted the consideration of a GPS diagnosis. However, platelet electron microscopy did not identify any abnormalities, leading to the exclusion of GPS.
LESSONS: These 2 NBEAL2 gene mutations (p.Thr365fs and p.Ala310Thr mutations) do not affect the degranulation of platelets.