The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients
نویسندگان
چکیده
Introduction Cryopyrin associated periodic syndromes (CAPS) are caused by autosomal dominant gain of function mutations in the NLRP3 gene. However, up to 50% of clinically diagnosed CAPS patients with typical clinical features and good response to anti-IL-1b treatment have no mutation detected by conventional Sanger DNA sequencing. Recent studies suggest that somatic NLRP3 mosaicism may account for a proportion of these apparently “mutationnegative” patients. Another possible explanation is that CAPS can be caused by other genetic mutations.
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Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
OBJECTIVE To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a child who had typical clinical features but who was NLRP3 mutation negative based on conventional Sanger sequencing. METHODS We performed whole-exome sequencing on DNA from peripheral blood, using Illumina TruSeq Exome capture and the HiSeq ...
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