Phenotype and mutations in COACH subjects reported in the literature
| Reference | Mutations* | Amino acid* | Age/sex | CNS | Liver | Col | RD | Renal | Other |
| Hunter 1974, case 1 | NA | NA | 12y/F | AT | HM(4y) PH(11y) | + | − | NPH(11y) | AB, post-axial PD, CD |
| Bx(4y): BDA, CHF, CG | |||||||||
| PSS(>11y) | |||||||||
| Hunter 1974, case 2 | NA | NA | 9y/M | AT | HSM(14 m) PH(6y) | + | − | NPH, CRF | AB, CD |
| Bx(14 m): CHF | |||||||||
| Thompson 1986, case 1 | NA | NA | 23y/F | NA | PH(8 m) | + | − | abn US: SK, CRF, ?NPH(21y) | AB, CD |
| Bx(14y): BDA, CHF | |||||||||
| PSS, splenectomy(14y) | |||||||||
| Thompson 1986, case 2 | NA | NA | 18m/F | EC, MCM | Bx/Ax(18 m): CHF | − | − | Ax(18 m): NPH | AB, SZ, HR |
| lg CB | dec:pneumonia(18 m) | ||||||||
| lg 4th V | |||||||||
| Verloes 1989, case 1† | c.2498T>C | p.I833T | 32y/M | CVH(CT) | HSM(<1y) ELE | − | − | CRF, NPH | AB, HR, club foot |
| c.G2556+1G>T | Spl | Bx(7,11y): BDA, CHF, CG | Bx(11y) | Small stature | |||||
| PSS(11y), dec: PH(32y) | Diet | ||||||||
| Verloes 1989, case 2† | c.2498T>C | p.I833T | 37y/F | CVH(CT) | HSM(13y), PH(36) | +L | − | CRF, NPH HD | HR |
| c.G2556+1G>T | Spl | Bx(11y): CHF, CH | Tx (20's) | ||||||
| PSS(30y) | |||||||||
| Verloes 1989, case 3 | NA | NA | 8y/M | Dilated 4th V, MCM(CT) | HSM(15 m) | + | − | CRF(8y), ?NPH | − |
| Bx(1,5y): BDA, CHF, CH | |||||||||
| Wiesner 1992, case 1 | NA | NA | 34y/M | CVH | ELE(34y) | + | − | − | Deaf |
| Bx(34y): BDA, CHF | |||||||||
| Rx: ursodiol | |||||||||
| Wiesner 1992, case 2 | NA | NA | 46y/F | AT | PH(NA) | NA | NA | Ax: NPH | − |
| Bx/Ax(46y): BDA, CHF | |||||||||
| dec: PH(46y) | |||||||||
| Lewis 1994, case 1 | NA | NA | 5y/F | MTS(CT) | HM(3 m),HSM(3y) PH(4y) | + | + (4 m) | CRF(5y) | dec: PH + CRF(5y) |
| Bx/Ax(3y): BDA, CHF, focal DPM | Ax; NPH | ||||||||
| dec: PH(5y) | |||||||||
| Lewis 1994, case 2 | NA | NA | 17m/M | CVH(CT) | HM(6 m) | + | + (12 m) | EK ?NPH(17 m) | AB, HR |
| Bx(1y): BDA, CHF | |||||||||
| Gentile 1996, case 1† | c.1769T>C | p.F590S | 16y/M | CVH | HSM(2y), ELE, PH(10y) | − | − | − | − |
| c.G1961-2A>C | Spl | Bx(7y, 10y): BDA, CHF | |||||||
| Tx(12,16y), dec: HCV hepatitis(16y) | |||||||||
| Gentile 1996, case 2† | c.1769T>C | p.F590S | 17y/M | MTS | HM(18 m), ELE, PH, HSP | − | − | − | − |
| c.G1961-2A>C | Spl | Bx(30 m): CHF | |||||||
| platelet transfusion PH, Rx | |||||||||
| Kumar 1996, case 1 | NA | NA | 23y/F | AT | HSM(21y), PH(22y), HSP(23y) | + | − | CRF(22y) | − |
| Bx(23y): BDA, CHF | Bx: NPH(23y) | ||||||||
| PSS | |||||||||
| Kumar 1996, case 2 | NA | NA | 6y/F | CVH, elevation 4th V | HM, ELE(5y) | + | − | − | − |
| Barzilai 1998 | NA | NA | 19y/F | MTS | ELE, HSM, PH, HSP(7y) | + | − | NPH(7y) | CD |
| Bx(7y): BDA, CHF | |||||||||
| Kirchner 2002 | NA | NA | 20y/F | CVH | ELE, HM(9y), PH, HSP(20y) | + | − | − | − |
| US(20y): liver nodules/fibrosis | |||||||||
| Bx(11y): CHF, C regenerative nodules | |||||||||
| Coppola 2002, case 1† | c.579_80delAG | p.G195IfsX13p.F590S | 10y/M | MTS | ELE(8y), abn US(10y) | − | − | − | − |
| c.1769T>C | Bx(10y): BDA, CHF | ||||||||
| Rx: ursodiol | |||||||||
| Coppola 2002, case 2† | c.579_80delAG | p.G195IfsX13 | 3y/F | MTS | Abn US | − | − | − | − |
| c.1769T>C | p.F590S | Bx(3y): CHF | |||||||
| Rx: ursodiol | |||||||||
| Coppola 2002, case 3 | NA | NA | 18y/M | CVH(CT) | PH(13y) | − | − | EK(13y), ?NPH | dec: PH(18y) |
| Bx(13y): CHF, CG | |||||||||
| sclerotherapy | |||||||||
| Herzog 2002 | NA | NA | 18y/F | CVH | ELE, PH, HSP(8y) | + | − | CRF(12y) | − |
| Bx(8y): BDA, CHF | |||||||||
| Tx(12y) | |||||||||
| Gleeson 2004, case 3 | NA | NA | 7y/M | MTS | ELE(3y), PH(5y) | + | − | EK, NC, NPH(5y) | AB |
| Bx(5y): BDA, CHF | |||||||||
| sclerotherapy | |||||||||
| Dieterich 1980, case 1 | NA | NA | 6y/F | CVH(CT) | HM(5y) | + | − | CRF | − |
| Bx(5y): BDA, CHF | Bx(5y): NPH | ||||||||
| dec: ESRD(6y) | |||||||||
| Dieterich 1980, case 2 | NA | NA | 6y/F | AT | PH(6y) | + | − | CRF, ?NPH | − |
| ?Ax/Bx: CHF(6y) | |||||||||
| dec: PH(6y) | |||||||||
| Uemura 2005, case 1 | NA | NA | 38y/F | AT | PH, ELE(18y), PH(22y), Bx(21y): BDA, CHF, PSS, splenectomy, Tx(28y) | + | − | CRF, ?NPH | − |
| HD(24y) Tx(28y) | |||||||||
| Uemura 2005, case 2‡ | NA | NA | 21y/F | MTS | SM(10y) | + | − | EK, NC, ?NPH | − |
| Bx(10y): CHF | |||||||||
| PSS | |||||||||
| Brinkman 2004§ | NA | NA | 28y/M | MTS | ELE, US(22y): fibrosis | + | − | NPH(22y) | AB, HR, Burkitt lymphoma (ileal) |
| ESRD(25y) | |||||||||
| Graber 2001, case 2 | NA | NA | 15m/M | MTS | HM(birth) | + | + | abn US(<15 m), NPH | − |
| Bx(<1y):CHF | |||||||||
| Baala 2007 JS-661 | c.1538A>G | p.Y513C | 28w | CVH(Ax) | Ax(28w EGA): BDA, CHF | NA | NA | RMC, ?NPH | Termination |
| c.2315_23+4 | Spl | fetus | |||||||
| del13insGG | |||||||||
| Baala 2007 JS-660 | c.1538A>G | p.Y513C | 30w fetus | CVH(Ax) | Ax(30w EGA): BDA, CHF | NA | NA | RMC, ?NPH | Termination |
| c.2315_23+4 | Spl | ||||||||
| del13insGG | |||||||||
| Baala 2007 JS-786 | c. 637C>T | p.R213C | 7y/M | CVH(CT) | “severe liver disease” | − | − | EK, RMC, ?NPH | AB |
| c. 2132A>C | p.D711A | ||||||||
| Wolf 2007 A1183 II-1 | RPGRIP1L: | Spl | 7y/M | CVH | PH(7y) | − | − | EK | AB, pituitary agenesis, abdominal myofibroblastic tumour |
| c.3497-2A>G | ? | Bx(7y): CHF | Bx: NPH | ||||||
| ? | |||||||||
| Wolf | RPGRIP1L: c.1177G>A | p.E393K | 29y/M | − | Bx(29y): CHF | + | − | EK, SK, NPH | − |
| 2007 F631 II-1 | ? | ? | ESRD(21y) | ||||||
| Brancati 2009 COR32-1 | c.1115C>A | p.T372K | 6y/M | MTS | HM, BDA(MRI) | + | − | − | AB |
| c.2345A>G | p.H782R | Unilateral renal agenesis | |||||||
| Brancati 2009 COR32-2 | c.1115C>A | p.T372K | 1y/M | MTS | ELE | + | NA | − | − |
| c.2345A>G | p.H782R | ||||||||
| Brancati 2009 COR71 | c.389C>G | p.P130R | 20y/F | MTS | HM, ELE | + | − | NPH | HR, small stature |
| c.675G>A | p.W225X | Bx: CHF | ESRD | ||||||
| Brancati 2009 COR94 | c.1319G>A | p.R440Q | 3y/M | MTS | HM, ELE | + | − | − | AB, CD, HR, small stature |
| c.2182A>G | p.S728G | Bx: CHF | |||||||
| Brancati 2009 COR190 | c.G312+5G>A | Spl | 9y/F | MTS | HM, ELE, BDA | − | − | NPH, CRF | AB |
| c.2498T>C | p.I833T | EC | |||||||
| Brancati 2009 COR191-1 | c.2460A>C | p.R820S | 9y/M | MTS | HM, ELE | − | − | NPH, ESRD | AB, HR |
| ? | ? | Bx: CHF | |||||||
| Brancati 2009 COR191-2 | c.2460A>C | p.R820S | fetus | CVH | Ax: CHF | − | NA | MKD | PD |
| ? | ? | EC | |||||||
| PKD238 Gunay-Aygun 2009 | c.224-2A>T c.1843T>C | p.C615R | 8y/M | MTS | ELE(5y), HSM(7y) | − | − | LK, EK(fetal) | − |
| Spl | Bx(7y): BDA, CHF | RMC(birth) | |||||||
| CRF, HTN | |||||||||
| PKD271 Gunay-Aygun 2009 | c.1843T>C | p.C615R | 6y/F | AT | ELE | − | − | MKD(fetal), CRF, HTN | − |
| c.1843T>C | p.C615R | ||||||||
| PKD272 Gunay-Aygun 2009 | c.1843T>C | p.C615R | 10y/M | MTS | ELE | − | − | HTN, CRF, NPH | − |
| c.1843T>C | p.C615R | Bx(5y): BDA, CHF | Bx(8y): RMC | ||||||
| CG(5y) | Tx(8y) |
See table 1 for key to abbreviations.
All UW subjects had developmental delay/mental retardation, hypotonia and/or ataxia, oculomotor apraxia.
Age refers to age at last contact in years (y), months (m) or weeks gestation (w).
Laterality of manifestations is stated as either; R, right; L, left; or bilateral unless otherwise stated.
↵* All mutations are in MKS3 except for the two families in Wolf 2007 as noted.
↵† also in Brancati et al39.
↵‡ unpublished information C Clericuzio.
↵§ also in Lindhout et al.60