Table 2.
Clinical and molecular data of 12 MKS families with biallelic TMEM67 mutations
| Family data | Clinical data | Genetic data | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| | ||||||||||||
| Fam | G.W. | Origin | CNS | eye | kidney | liver | other | Nucleotide changes | Exon | Effects on protein | Tr | |
| DEG | 772 | 21(?) | US | Emc | n.a. | + | BDP | c.T2322+2dupT | 22 | Splice | M | |
| c.2561dupA | 25 | p.N854KfsX5 | P | |||||||||
| | ||||||||||||
| CHA | 800 | 24(F) | FR | CVA | n.a. | + | BDP | c.1322G>T | 13 | p.R441L +++ | P | |
| c.2002T>C | 20 | p.W668R+++ | M | |||||||||
| | ||||||||||||
| LEF | 812 | 26(F) | FR | Emc | n.a. | + | BDP | BU | c.2542G>T | 24 | p.E848X | M |
| c.2357G>A | 23 | p.G786E +++ | P | |||||||||
| | ||||||||||||
| BAI | 922 | 20(F) | IT | DW | n.a. | + | BDP | c.675G>A | 7 | p.W225X | M | |
| 923 | 17(F) | CVA | + | BDP | c.2528A>G | 24 | p.Y843C +++ | P | ||||
| | ||||||||||||
| MAR | 960 | 14 (?) | FR | Emc | n.a. | + | BDP | CP, IUGR | c.1046T>C | 10 | p. L349S ++ | M |
| c.2689_2690insTA | 26 | p.L897IfsX64 | P | |||||||||
| | ||||||||||||
| DEB | 965 | 19 (F) | FR | CVA H PMG | n.a. | + | BDP | c. T1413-1G>C | 13 | Splice | M | |
| c.2301delT | 22 | p.D768IfsX5 | P | |||||||||
| | ||||||||||||
| FOF | 1007 | 16(M) | SN | DW | n.a. | + | - | c.1538_1539delAT | 15 | p.Y513X | Ho | |
| 1008 | 13(M) | DW | + | - | ||||||||
| | ||||||||||||
| SAH | 1044 | 26(F) | ? | Emc DW | n.a. | + | BDP | VS | c.579delA | 6 | p.G195DfsX27 | Ho |
| | ||||||||||||
| TAM | 1077 | 13(F) | AL | Emc | n.a. | + | BDP | ToF | c.1046T>C | 10 | p.L349S ++ | Ho |
| | ||||||||||||
| ELO | 1088 | ?(M) | MO | Emc CVA | n.a. | + | BDP | c.579_580delAG | 6 | p.G195IfsX13 | Ho | |
| | ||||||||||||
| COR 141 | NG 2405 | ?(?) | FR | Emc | n.a. | + | BDP | c.1319G>A | 13 | p.R440Q ++ | Ho | |
| | ||||||||||||
| COR 238 | NG 2357 | 21(?) | IT | Emc DW CCH | n.a. | + | BDP | c.387T>A | 3 | p.C129X | P | |
| c.755T>C | 8 | p.M252T +++ | M | |||||||||
BDP: bile duct proliferation; BU: bicornate uterus; CCH: corpus callosum hypo/aplasia; CP: cleft palate; CVA: cerebellar vermis agenesis; DW: Dandy-Walker malformation; Emc: encephalomeningocele; G.W.: gestational week; H: hydrocephalus; Ho: homozygous; IUGR: intra-uterine growth retardation; n.a.: not available; PMG: polymicrogyria; ToF: tetralogy of Fallot; VS: vaginal septum. Origin: US: United States; FR: France; SN: Senegal; AL: Algeria; MO: Morocco. Other abbreviations as in Table 1.