GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
Benares, India. In Congenit Anom (kyoto), 27 Nov 2015
The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); second one is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G>A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP).
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
In Rinsho Byori, May 2015
The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Padova, Italy. In Int J Rheumatol, 2012
To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist.