Seven different MKS3/TMEM67 mutations in four families with Joubert/COACH syndrome
| Family | Ethnic origin | Nucleotide change* | Deduced protein change* | Exon (allele) | Parental consanguinity | Kidney (age at ESRF in years) | Eye | Liver | Brain |
| F190 | Germany | c.755T→C | p.M252T | 8, 18 (compound heterozygous) | No | NPHP (14) | Nystagmus, oculomotor apraxia chorioretinal coloboma | Liver fibrosis | Ataxia, PR |
| c.1843T→C | p.C615R | ||||||||
| F56 | Germany | c.130C→T | p.Q44X | 1, 24 (compound heterozygous) | No | NPHP (12) | Retinal degeneration, chorioretinal coloboma, | ND | Ataxia, CVH |
| c.2461G→C | p.G821R | ||||||||
| A144 | Germany | c.622A→T | p.R208X | 6, 24 (compound heterozygous) | No | NPHP (15) | NAD | Liver fibrosis | Mental retardation, CVA |
| c.2498T→C | p.I833T | ||||||||
| A1371-II1, A1371-II2 | Morocco | c.1888T→C | p.S630P | 19 (homozygous) | Yes | NPHP (8) | Blindness, strabism, ptosis, retinal coloboma | Liver fibrosis | Ataxia, hypotonia, PR, CVA |
| NPHP (<10) | Blindness | Liver fibrosis | auditory problems, CVA |
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COACH, Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and congenital Hepatic fibrosis; CVA, cerebellar vermis aplasia; CVH, cerebellar vermis hypoplasia; ESRF, end stage renal failure; NAD, nothing abnormal detected; NPHP, nephronophthisis; PR, psychomotor retardation.
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*Mutation numbering is based on MKS3/TMEM67 human reference sequence NM_153704.5, where +1 corresponds to the A of ATG start translation codon.
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Novel mutations are highlighted in bold. All mutations were absent from at least 91 healthy control subjects.
