From: A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report
Publication | Number of patients | Mutation(s) reported | Molecular defect | Clinical properties | Date of Publication | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Consanguineous parents | Age at diagnosis-(years) | Camptodactyly | Arthropathy in large joints | Coxa vara deformity | Pericarditis | Patient nationality | |||||
Alazami et al. [3] | 7 | 4 | c.3139_3140delAA c.4078A > T c.923_924delAA c.3125_3128delGAGT c.3276_3277delAA | 3/4 | 1.5–8 | 7/7 | 7/7 | 5/7 | 0/8 | Arabian | 2006 |
Peters et al. [4] | 1 | 1 | c.1290del | 1/1 | 10 | 1/1 | 1/1 | 1/1 | 1/1 | Turkish | 2016 |
Yilmaz et al. [5] | 35 | 10 | c.1194delC c.3917_3934del c.3276_3277delAA c.4101C > G c.1192delC c.1911delT c.2215A > T c.1910_1911delCT c.2837_2838delAA c.849delA | 10/11 | 1–52 | 35/35 | 35/35 | 35/35 | 3/35 | Turkish, Northern Iraqi | 2018 |
Marcelino et al. [6] | 8 | 5 | c.2805del5 c.3240del7 c.3023del2 c.3690del5 c.4190CC → AG | 4/4 | 2–13 | 8/8 | 8/8 | 7/8 | 2/8 | Arabian Canadian | 1999 |
Albuhairan and Al-Mayouf et al. [7] | 22 (15 patients previously published) | 5 (new) | c.923_924delAA c.3125_3128delGAGT c.3139_3140delAA c.3276_3277delAA c.4078A > T | 10/15 | 1–14 | 22/22 | 22/22 | 22/22 | 2/22 | Arabian | 2013 |
Patil et al. [8] | 2 | 1 | c.884_885delAG | 0/1 | 9–13 | 2/2 | 2/2 | 2/2 | 2/2 | Indian | 2016 |
Kisla Ekinci et al. [9] | 3 | – | – | 2/2 | 3–8 | 3/3 | 3/3 | 2/3 | 0/3 | Turkish | 2021 |
Basit et al. [10] | 6 | 1 | c.2816_2817delAA | 1/1 | NA | 6/6 | 6/6 | 6/6 | 0/6 | Pakistani | 2011 |
Akawi et al. [11] | 4 | 1 | c.1320dupC | 1/1 | 5–12 | 4/4 | 4/4 | 4/4 | 0/4 | Arabian | 2012 |
Mannurita et al. [12] | 13 | 5 | c.1982_1983delCT c.2153delA c.2754_2758delGACAA c.3636 + 3A > G c.3648C > A | 1/10 | 0–15 | 10/13 | 13/13 | 11/13 | 4/13 | European cohort (Italian, Albanian, and Dutch) | 2014 |
Nandagopalan et al. [13] | 3 | 2 | c.2645_2646delGA c.2883_2886delAAGA | 0/2 | 5–13 | 3/3 | 3/3 | 3/3 | 0/3 | Indian | 2014 |
Johnson et al. [14] | 2 | 1 | chr1:186275834dupT | 1/2 | 12–13 | 2/2 | 2/2 | 2/2 | 0/2 | Indian | 2021 |
Total | 106 | 36 | – | 34/54 | – | 103/106 | 106/106 | 100/106 | 14/106 | – | – |