Group | Gene mutation, inheritance and family history | Diseases pattern |
---|---|---|
Watkin et al., 2015 [3] and Tsui et al., 2018 [2] (n = 21) | Mutations: c.698G > A p.Arg233His, c.728A > G p.Asp243Gly, c.721G > A p.Glu241Lys, c.690G > T p.Lys230Asn. Four missense mutations in exons 8 and 9 of the COPA gene. Heritance: Autosomal dominant. (c.721G > A), (c.728A > G) and (c.698G > A) mutations: Mostly incomplete penetrance but showed complete penetrance over two generations in only one family. (c.690G > T) mutation: Inconclusive regarding penetrance (carrier is just 1 year old and is asymptomatic at this point) | 20/21 (95%) had Polyarthritis, 21/21 (100%) had a progressive pulmonary disease. 4 (19%) patients had an immune-mediated renal disease. Two families with c.721G > A p. Glu241Lys mutation did not have renal disease. One patient had a recurrent nonspecific rash. |
Brynjar O. Jensson, et al. 2017 [4] (n = 3) | Mutation: c.721G > A p. Glu241Lys. Heritance: Index case had de novo mutation as both of his parents were negative for gene mutation and were healthy at the time of writing. 2/3 (66%) had autosomal dominant with complete penetrance. | 3/3 (100%) had polyarthritis. 3/3 (100%) had a progressive pulmonary disease. No renal involvement. 1/3 (33%) had nail clubbing. |
Brennan MA. et al. 2017 [8] (n = 1) | Mutation: c.727G > A/p. Asp243Asn. Substitution in exon-9. Heritance: De novo mutation. No family history but parental genetic status not available. | 1/1 (100%) -had erosive destructive Poly JIA at age 30 months of age as presentation. At age 6 years, presented with progressive restrictive lung disease Positive for CF gene test [CFTR: genotype F508del/R117H(7 T). Sweat chlorides 52 and 38 mmol/L], GERD (needed fundoplication) Developed Systemic Lupus Erythematosus later in the disease course. Developed MAS. No renal disease. Positive for finger clubbing |
Volpi S et.al. 2018 [7] (n = 1) | Mutation: c.698GNA. Heritance: Autosomal dominant with variable penetrance. Mother of the index case was identified to be an asymptomatic carrier of same gene mutation. | Presented with progressive severe destructive polyarthritis Years later presented with progressive restrictive pulmonary diseases. No pulmonary hemorrhage or hemoptysis. No renal disease. |
Patwardhan A et al. | Mutation: c.722A > C p, Glu241Ala. Heritance: Autosomal dominant with complete penetrance. Son-the index case and his father. Sibling of the index case is negative for mutation. | 2/2 (100%)-Presented with progressive mixed obstructive and restrictive lung disease, chronic respiratory insufficiency, cough, oxygen requirement, artificial ventilation, pulmonary hemorrhages. 1/2 (50%)- Father had arthralgias and later developed destructive polyarthritis. 0/2 (0%) -No renal disease |