Sample | Mutation | Phenotype | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Id | Ethnicity | Gene | Allele 1 | Allele 2 | OE | PK | PD | DPM | CLP | DWM | Other |
Consanguineous | |||||||||||
102 + 103 + 244 + 270 | Pakistani | MKS1 | c. 1448_1451dupCAGG | MKS1 c. 1448_1451dupCAGG | + | + | + | + | Short neck, low set ears, bilateral talipes, syndactyly, micropenis, situs inversus, congenital heart defect inc. dextrocardia, short femurs and short spindle-shaped tibiae, deformed tongue | ||
264 | Jordanian | MKS1 | c. 1408-35_1408-6del30N | c.1408-35_1408-6del30N | diagnosed with MKS | ||||||
42 + 43 | Pakistani | TMEM138 | c. A287G p.H96R | c. A287G p.H96R | + | + | + | ||||
29A + 33A | Pakistani/Mirpuri | TMEM67 | c. 1575 + 1 G > A | c. 1575 + 1 G > A | + | + | + | + | |||
70 | Pakistani/Mirpuri | TMEM67 | c. 1575 + 1 G > A | c. 1575 + 1 G > A | + | + | |||||
76 | Pakistani/Mirpuri | TMEM67 | c. 1575 + 1 G > A | c. 1575 + 1 G > A | + | + | |||||
77117 | Pakistani | TMEM67 | c. 1575 + 1 G > A | c. 1575 + 1 G > A | diagnosed with MKS | ||||||
51 | Pakistani/Mirpuri | TMEM67 | c. 870-2A > G | c. 870-2A > G | + | ||||||
73 | Pakistani/Mirpuri | TMEM67 | c. 870-2A > G | c. 870-2A > G | + | + | + | ||||
319 | British | TMEM67 | c. 1392 C > T p.R441C | c. 1392 C > T p.R441C | + | + | some dialation of pancreatic ducts, hydrocephalus, posterior fossa cyst | ||||
347 | Pakistani | TMEM67 | c. 1392 C > T p.R441C | c. 1392 C > T p.R441C | diagnosed with MKS | ||||||
67FB | Pakistani | TMEM67 | c. 647delA, p.E216fsX221 | c. 647delA, p.E216fsX221 | + | + | + | + | |||
P95 | Pakistani | TMEM67 | c. 1127A > C p.Q376P | c. 1127A > C p.Q376P | + | + | + | ||||
125 | Omani | TMEM67 | c. 383_384delAC p.H128fsX140 | c. 383_384delAC p.H128fsX140 | + | + | + | + | |||
170 | Turkish | TMEM67 | c. 1674 + 1 G > AN | c. 1674 + 1 G > AN | diagnosed with MKS | ||||||
205 | Chinese | TMEM67 | c. 1615 C > T p.R549CN | c. 1615 C > T p.R549CN | + | + | hypoplastic cerebellum, small fourth ventricle with large cisterna magna, small defect in superior aspect of occipital bone | ||||
C28 | Pakistani | TMEM67 | c. 274 G > A p.G92RN | c. 274 G > A p.G92RN | MTS, coloboma, mental retardation | ||||||
39 | Pakistani/Mirpuri | CEP290 | c. 1429 C > T p.R477XN | c. 1429 C > T p.R477XN | + | + | |||||
292 | Pakistani | CEP290 | c. 954delT p.S318fs16XN | c. 954delT p.S318fs16XN | + | ||||||
333 | Pakistani | CEP290 | c. 5744insT p.G1915FfsX1N | c. 5744insT p.G1915FfsX1N | + | ||||||
207 | Pakistani | RPGRIP1L | c. 1945 C > T p.R649XN | c. 1945 C > T p.R649XN | + | + | + | small cerebellum | |||
336 | Pakistani | RPGRIP1L | c. 1945 C > T p.R649XN | c. 1945 C > T p.R649XN | diagnosed with MKS | ||||||
158 | Pakistani | CC2D2A | c. 3540delA p.R1180SfsX6N | c. 3540delA p.R1180SfsX6N | + | + | + | + | + | low set ears, pulmonary hypoplasia, intestinal malrotation, markedly enlarged pancreas- irregular ducts on histology, brain shows dilated fourth ventricle with small cerebellum, poorly developed pyramidal tracts and some possible dysplasia in the basal ganglia | |
180 | Pakistani | CC2D2A | c. 3540delA p.R1180SfsX6N | c. 3540delA p.R1180SfsX6N | + | + | + | + | |||
261 | Jordanian | TMEM237 | c. 1066_1067dupC p.Q356PfsX23 | c. 1066_1067dupC p.Q356PfsX23 | meningomyelocele, developmental delay, cortical visual impairment | ||||||
178 | Pakistani/Mirpuri | TMEM67 | c. 1615 C > T p.R549CN | not detected | diagnosed with MKS | ||||||
16 + 17 | Pakistani | CC2D2A | c. 685_687delGAA het p.E229del | not detected | + | + | |||||
66 F1 + 66 F2 | Pakistani | CC2D2A | c. 685_687delGAA het p.E229del | not detected | + | + | + | + | absent uterus, micrognathia, bilateral talipes, low set ears, wide spread eyes | ||
Non-Consanguineous | |||||||||||
106 | British | MKS1 | c. 1408-35_1408-7del29 | c. 1408-35_1408-7del29 | + | + | + | + | |||
77172 | Finnish | MKS1 | c. 1408-35_1408-7del29 | c. 811delC p.H271fsX29N | diagnosed with MKS | ||||||
74699 | British | MKS1 | c. 1408-35_1408-7del29 | c. 1408-35_1408-7del29 | diagnosed with MKS | ||||||
162 + 163 | British | TMEM216 | c. 253 C > T p.R85X† | c. 253 C > T p.R85X† | + | + | + | + | + | facial dysmorphism, postural deformities of limbs, small perimembranous ventricular septal defect, intestinal malrotation | |
176 + 177 | British | TMEM67 | c. 1426 C > T p.P476S†† | c. 2440–3 C > A | + | + | + | + | flexion deformity of elbows and wrists, low set ears | ||
186 | British | TMEM67 | c. 755 T > C p.M252T | c. 653 G > T p.R208X††† | + | + | |||||
302 | British | TMEM67 | c.755 T > C p.M252T | c.651 + 5 G > A p.V217VfsN | + | + | + | agenesis of corpus callosum | |||
83527 | Norwegian-Indian | TMEM67 | c. 755 T > C p.M252T | c. 2882 C > A p.S961YN | + | + | + | ||||
74406a + b | TMEM67 | c. 1351 C > T p.R451X | c. 2108 T > A p.V673A | + | + | mental retardation, retinal coloboma | |||||
210 + 239 | Dutch | CEP290 | c. 679_680delGA p.E227SfsX2 | c. 1984 C > T p.Q662X | + | + | + | abnormal cerebellum, wide nasal bridge, extended abdomen, thoracic and abdominal situs inversus, intestinal rotation, small bladder, uterus duplex | |||
153 + 154 | French | CEP290 a | c. 2251 C > T p.R751X | c. 4864insTdelCG p.R1622FfsX9N | + | ||||||
166 | British | RPGRIP1L | c. 1829A > C p.H610P | c. 721_724delAATG p.N241fsX25 | + | + | + | + | |||
128 | British | CC2D2A | c. 3544 T > C p.W1182R | c. 3774_3774insT p.E1259fsX1 | diagnosed with MKS | ||||||
36 + 36A | Pakistani/Gujarati | RPGRIP1L | c. 466 C > T p.R156C*N | not detected | + | + | |||||
111 + 112 | Portuguese | CEP290 | c. 1451delA p.K484fsX8 | not detected | + | + | + | ||||
202 | British | CC2D2A | c. 685_687delGAA p.E229del** | not detected | + | + | craniofacial abnormalities related to oligohydramnios, bone-cartilage junctions showed disarray |