Table 1 of Ehrenberg, Mol Vis 2019; 25:691-702.
Family | Patient # (Gender) | Consanguinity | Suspected diagnosis (inheritance mode) | Actual diagnosis (inheritance mode) | First molecular finding | Second molecular finding | Third molecular finding | Reference |
---|---|---|---|---|---|---|---|---|
1 | 1 (F) | Yes | USH (AR) | RP (AR) + HL (AR) | FAM161A (NM_001201543; OMIM: 613596): c.1355_1356del; p.Thr452Serfs*3 (hom) (RP) | TMC1 (NM_138691; OMIM: 606706): c.1939T>C; p.Ser647Pro (hom) (HL) | NA | Current study |
2 | 1 (F) | No | Syndromic RP (?) | RP (AR) + hemifacial microsomia (AD) | RDH12 (NM_152443; OMIM: 608830): c.164C>T; p.Thr55Met (het) c.295C>A; p.Leu99Ile (het) (RP) | OTX2 (NM_021728.3; OMIM: 600037): duplication Arr[hg19]14q22.3 (57269186_57925544)dup (het) (hemifacial microsomia) | NA | Current study |
3 | 1 (F) | No | FMF (AR) and RP (?) | RP (AR)+ FMF (AR) | FAM161A (NM_001201543; OMIM: 613596): c.1567C>T; p.Arg523* (hom) (RP) | MEFV (NM_000243.2; OMIM: 608107): c.2080A>G; p.Met694Val (hom) (FMF) | NA | Current study |
4 | 1 (M) | No | Syndromic RP (?) | RP (XL) + DI (XL) + HL (AR) | RPGR (NM_001034853.1; OMIM: 312610): c.2272G>T; p.Glu758* (hemi) (RP) | AVPR2 (NM_000054.5; OMIM: 300538): c.672C>A; p.Cys224* (hemi) (DI) | STRC (NM_153700.2; OMIM: 606440) – CATSPER2 (NM_172095.3; OMIM: 607249) del (hom) (HL) | Current study |
5 | 1 (M) | Yes | Syndromic RP (?) | RP (?) + HL (AD?) + cholestatic liver disease (AR) | TJP2 (NM_004817; OMIM: 607709): c.2353C>T; p.Glu785* (hom) (cholestatic liver disease and HL) | ? (RP) | NA | Current study |
6 | 1 (M) | Yes | CGD and RP (XL) (AKA contiguous gene deletion syndrome, McLeod phenotype) | RP (?) + CGD (AR) | NCF2 (NM_001127651.2; OMIM: 608515): c.196C>T; p.Arg66* (hom) (CGD) | ? (RP) | NA | Current study |
7 | 2 (M) | Yes | ARB (AR) + ichtiosis (AR) | ARB (AR) + ichtiosis (AR) | BEST1 (NM_004183.3; OMIM: 607854): c.74G>A; p.Arg25Gln (hom) (ARB) | ? (ichtiosis) | NA | Current study |
8 | 2 (M) | No | RP (AR) + ID (?) | RP (AR) + ID (?) | ABCA4 (NM_000350.2; OMIM: 601691): c.5882G>A; p.Gly1961Glu (hom) (RP) | ? (ID) | NA | Current study |
9 | 1 (F) | No | USH (AR) | RP (AD) + HL (?) | PRPF31 (NM_015629; OMIM: 606419): c.1108G>T; p.Glu370* (het) (RP) | ? (HL) | NA | Current study |
10 | 1 (M) | No | Danon Disease (XL) | CRD (AR) + ID (?) + bradycardia (?) | ABCA4 (NM_000350.2; OMIM: 601691): c.G3482G>A; p.Arg1161His (hom) (CRD) | ? (ID) | ? (bradycardia) | Current study |
11 | 1 (F) | Yes | Ciliopathy (AR) | Juvenile RP (AR) + PCD (?) | GUCY2D (NM_000180; OMIM: 600179): c.389del; p.Pro130Leufs*36 (hom) (juvenile RP) | ? (PCD) | NA | Current study |
12 | 1 (M) | No | CSNB (XL) + single kidney (?) + amelogenesis imperfect (?) | CSNB (XL) + single kidney (?) + amelogenesis imperfect (?) | CACNA1F (NM_005183; OMIM: 300110): c.4294-9G>A (IVS36-9G>A) (CSNB) | ? (single kidney) | ? (amelogenesis imperfect) | Current study |
13 | 1 (F) | Yes | USH (AR) | USH (AR)+ RP (AR) | MYO7A (NM_000620; OMIM: 276903): c.2308delC; p.Asn769fsX4 (hom) (USH) | PDE6B (NM_000283; OMIM: 180072): c.1417delC; p.Leu473fsX16 (hom) (RP) | NA | [24] |
14 and 15 | 1 and 1 | No | ESCS (AR) + Early-onset OPMD (AD) | ESCS (AR) + Early-onset OPMD (AD) | NRL (NM_006177.3; OMIM: 162080): c.91C>T; p.Arg31* (hom) (ESCS) | PABPN1 (NM_004643; OMIM: 602279): (GCN)13 (hom) (OPMD) | NA | [25] |