|Group||Gene mutation, inheritance and family history||Diseases pattern|
Watkin et al., 2015 |
and Tsui et al., 2018 
(n = 21)
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 |
(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 |
(n = 1)
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 |
(n = 1)
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