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. Author manuscript; available in PMC: 2011 May 1.
Published in final edited form as: Hum Mutat. 2010 May;31(5):E1319–E1331. doi: 10.1002/humu.21239

Table 1.

Clinical and molecular data of eight JSRD families with biallelic TMEM67 mutations

Family data Clinical data Genetic data

Family Age (sex) Origin CNS Eye kidney liver other Nucleotide changes Exon Effects on protein Tr
COR47 NG 1604 8(M) IT MT EV Co - (8) ELE c.370G>A 3 p.E124K + P
NG 2001 4(F) MTS ONH - (4) ELE c.1073C>T 11 p.P358L +++ M

COR113 NG 2016 3(M) IT MTS Co(L) - (3) LI c.1706G>A 17 p.G569D ++ P
c.G1860+1G>A 18 Splice M

COR143 NG 2038 1(F)* SW MTS Co UCD ELE c.1285C>T 12 p.Q429X M
c.1847C>T 18 p.A616V + P

COR212 NG 2358 15(F) IT MTS Co cysts, CRI (6m) HSM ELE c.1115C>A 11 p.T372K ++ M
c.2216T>G 21 p.L739R ++ P

COR240 NG 2367 5(M) IT MTS - - (5) HSM ELE LI c.1077_1078 11 p.T360RfsX18 M
c.1769T>C 17 p.F590S ++ P

COR265 NG 2511 23(M) IT MTS Co(L) - (23) CHF PD(4) c.270T>G 2 p.N90K ++ M
c.755T>C 8 p.M252T +++ P

COR266 NG 2515 4(F) GE MTS Co - (2) CHF c.300C>A 2 p.C100X M
c.2498T>C 24 p.I833T ++ P

COR254 NG 2466 8(M) GE MTS - - (8) ELE c.903C>G 9 p.D301E + M
c.1538A>G 15 p.Y513C+++ P

CHF: congenital hepatic fibrosis; Co: chorioretinal colobomas; CRI: chronic renal insufficiency; ELE: elevated liver enzymes; EV: enlarged ventricles; HSM: hepatosplenomegaly; IUGR: intrauterine growth retardation; (L): left eye only; LI: liver imaging consistent with ductal plate malformation; M: maternal; MTS: molar tooth sign; ONH: optic nerve hypoplasia; P: paternal; PD: polydactyly (number of limbs); Tr: transmission; UCD: urinary concentration defect. Origin: IT: Italy; SW: Sweden; GE: Germany.

*

One pregnancy terminated for prenatal diagnosis of JSRD. PolyPhen prediction: benign:

+

possibly damaging:

++

probably damaging:

+++

Novel mutations are in bold.

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