Table 2.
Phenotypes of MKS3 mutated patients
| Family ID/country of origin | Nucleotide change (exon) | Protein mutation | Sex/YOB | Age at last exam | Central Nervous System | Liver | Retina | Kidney | Other |
|---|---|---|---|---|---|---|---|---|---|
| COR09/Italy1 | c.1769T>C (17) | p.F590S | M/1978† | 14 yrs | MTS, H, A, DD, MR, OMA, N | ELE, CHF, HM, EV, LT | - | - | - |
| c.G1961-2A>C | splice | M/1991 | 17 yrs | MTS, H, DD, MR, OMA, N | ELE, CHF, HM, EV | - | - | - | |
| COR20/Italy2 | c.579_580delAG (6) | p.G195IfsX13 | M/1991 | 8 yrs | MTS, A, DD, MR, OMA, N | ELE, CHF | - | - | - |
| c.1769T>C (17) | p.F590S | F/1998 | 3 yrs | MTS, H, A, DD, MR, OMA | CHF | - | - | - | |
| COR32/Italy | c.1115C>A (11) | p.T372K | M/2002 | 6 yrs | MTS, AB, H, DD, MR, OMA | BDD, HM | Co | RKA | - |
| c.2345A>G (23) | p.H782R | M/2007 | 1 yr | MTS, H, DD, OMA, N | ELE | Co | - | - | |
| COR71/Italy | c.389C>G (3) | p.P130R | F/1991 | 20 yrs | MTS, H, A, DD, MR, OMA | ELE, CHF, HM | Co | NPH, ESRF | HR, U |
| c.675G>A (7) | p.W225X | ||||||||
| COR94/Italy | c.1319G>A (13) | p.R440Q | M/2005 | 3 yrs | MTS, AB, H, DD, MR, OMA, | ELE, CHF, HM | Co | - | CD, HR, U |
| c.2182A>G (21) | p.S728G | N | |||||||
| COR190/Croatia | c.G312+5G>A | splice | F/1998 | 9 yrs | MTS, EC, AB, H, A, DD, MR, | ELE, BDD, HM | EOC | NPH, CRF | CD, HR |
| c.2498T>C (24) | p.I833T | OMA, Sz | |||||||
| COR191/Croatia | c.2460A>C (24) | p.R820S | M/1998 | 9 yrs | MTS, AB, A, DD, MR, N, Sz | ELE, CHF, HM | POD | NPH, ESRF | HR |
| ? | ? | M/- | fetus§ | CVA, EC | CHF | - | CK | P | |
| MTI124/Belgium3 | c.2498T>C (24) | p.I833T | F/1971 | 32 yrs | CVA, H, A, DD, MR | ELE, CHF, HM | Co | NPH, ESRF | D, U |
| c.G2556+1G>T | splice | M/1974† | 29 yrs | CVA, H, A, DD, MR, N | CHF, HM, EV | - | NPH, CRF | HR, U |
YOB: year of birth; †: deceased. Central Nervous System: A: ataxia; AB: abnormal breathing; CVA: cerebellar vermis aplasia; DD: developmental delay; EC: encephalocele; H: hypotonia; MR: mental retardation; MTS: molar tooth sign; N: nystagmus; OMA: oculomotor apraxia; Sz: seizures. Liver: BDD: bile ducts dilatation at liver MRI; CHF: congenital hepatic fibrosis at liver biopsy; ELE: elevated liver enzymes; EV: esophageal varices; HM: hepatomegaly; LT: liver transplant. Retina: Co: colobomas; EOC: enlarged optic cup; POD: pale optic disk. Kidney: CK: cystic kidneys; CRF: chronic renal failure; ESRF: end stage renal failure; NPH: nephronophthisis; RKA: right kidney agenesis. Other: CD: choreo-dystonic movements; D: diabetes following acute pancreatitis; HR: hyperreflexia; P: polydactyly; U: undergrowth (heigh and weight < 3rd centile). §DNA not available.
described in Gentile et al., 1996;
described in Coppola et al., 2002 (patients 1 and 2);
described in Verloes and Lambotte, 1989 (patients 1 and 2). Mutation numbering is based on cDNA sequence with a “c.” symbol before the number, where +1 corresponds to the A of ATG start translation codon of the cDNA reference sequence (NM_153704.4). Human meckelin reference sequence, NP_714915.3.