Table 2 General features of all patients with ARL2BP-related retinal dystrophies described in the scientific literature
Nr | Sex | Ethnicity | Pathogenic variant | Status | General features | Reference | ||||
|---|---|---|---|---|---|---|---|---|---|---|
Situs inversus | Infertility | Kidney disease | Cryptorchidism | Hearth defects | ||||||
1 | F | Arab-Muslim | c.101-1G > C | HOM | YES (complete) | NR | NR | NO | NO | Davidson AE et al. [1] |
2 | M | Arab-Muslim | c.101-1G > C | HOM | YES (complete) | NR | NR | NR | NO | Davidson AE et al. [1] |
3 | M | Arab-Muslim | c.101-1G > C | HOM | NO | NR | NR | NR | NO | Davidson AE et al. [1] |
4 | M | European | c.134T > G; p.(Met45Arg) | HOM | NR | NR | NR | NR | NO | Davidson AE et al. [1] |
5 | F | White | c.390 + 5G > A | HOM | NR | NR | NO | NO | NO | Fiorentino A et al. [4] |
6 | M | North African | c.207 + 1G > A | HOM | NI | NR | NR | NR | NO | Fiorentino A et al. [4] |
7 | F | North African (Moroccan) | c.207 + 1G > A | HOM | NO | NR | NR | NO | NO | Audo I et al. [5] |
8 | F | North African (Moroccan) | c.207 + 1G > A | HOM | NO | NR | NR | NO | NO | Audo I et al. [5] |
9 | M | European (Portugal) | c.207 + 1G > A | HOM | NR | YES | NR | NR | YES | Moye AR et al. [12] |
10 | F | European (Portugal) | c.33_36delGTCT; p.(Phe13Profs*15) | HOM | NR | NR | NR | NR | NO | Moye AR et al. [12] |
11 | M | Asian (Chinese) | c.22_23delAG; p.(Ser8Leufs*10) | HOM | YES (complete) | YES | NR | MD | NR | Zhu T et al. [6] |
12 | M | European | c.294-1G > C | HOM | YES | YES | YES | YES | YES (mitral valve prolapse without regurgitation) | Placidi G et al. |