Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations

• Main Authors: Duangrurdee Wattanasirichaigoon, Suwat Benjaponpitak, Chonnamet Techasaensiri, Wasu Kamchaisatian, Pakit Vichyanond, Sucheela Janwityanujit, Lulin Choubtum, Sayomporn Sirinavin
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/22957

X-linked agammaglobulinemia is caused by mutations in the human BTK gene, leading to recurrent pyogenic infections. We describe four novel and three known BTK-mutations in seven patients from seven (six Thai and one Burmese) families. All but one were sporadic cases. Patients 1 and 2 had recurrent m...