Skip to main content

Table 1 Literature review of mutation-proven CACP syndrome cases

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