Background
Methods
Patients
Genomic DNA Isolation
Polymerase Chain Reaction (PCR)
DNA sequencing
Results
Patients' phenotypes
Features
| Case 1 | Case 2 | Case 3 | Case 4 |
---|---|---|---|---|
Ethnic origin | UAE/Yemini | Sudan | Egypt | UAE/Afghani |
CHD | Common atrium with dilated coronary sinus | ? | AV canal defect | ASD |
Facial Features
| ||||
Short/thin upper lip | + | + | + | + |
Short/multiple frenula | + | + | + | + |
Irregular alveolar ridge | + | + | + | + |
Natal teeth | - | + | + | + |
Short broad nose | + | + | + | + |
Long philtrum | + | + | + | + |
Skeletal features
| ||||
Postaxial polydactyly | Hands, right | Hands, bilateral | Hands, bilateral | Hands and feet, bilateral |
Limb shortening | Mesomelic | Mesomelic | Mesomelic | Mesomelic |
Narrow chest | + | + | + | + |
Nail hypoplasia | + | + | + | +/- |
Radiological Features
| ||||
Short long bones | + | + | + | + |
Short ribs with narrow chest | + | + | + | + |
Small iliac bones with downward spike | + | + | + |
Family 1
Family 2
Family 3
Family 4
Patients' genotypes
dbSNPs | Gene | Reference Number | Minor Allele Frequencya
| Average Heterozygosityb
|
---|---|---|---|---|
NM_153717.2:c.769 C>T
|
EVC
| rs6446393 | C:0.04 | -- |
NM_153717.2:c.772 T>C
|
EVC
| rs6414624 | T:0.13 | 0.351 +/- 0.229 |
NM_153717.2:c.939+4T>C
|
EVC
| rs2286343 | T:0.43 | 0.480 +/- 0.098 |
NM_153717.2:c.969 T>C
|
EVC
| rs4688963 | T:0.47 | 0.500 +/- 0.014 |
NM_153717.2:c.1026 G>C
|
EVC
| rs4688962 | G:0.37 | 0.461 +/- 0.135 |
NM_153717.2:c.1854C>T
|
EVC
| rs11737221 | -- | -- |
NM_153717.2:c.2305-8A>T
|
EVC
| rs1031919 | T:0.48 | 0.441 +/- 0.162 |
NM_153717.2:c.2894+18G>A
|
EVC
| rs2279250 | A:0.43 | 0.499 +/- 0.020 |
NM_153717.2:c.*14G>A
|
EVC
| rs2291151 | A:0.01 | 0.496 +/- 0.045 |
NM_147127.3:c. 2151C>T*
|
EVC2
| unknown | -- | -- |
NM_147127.3:c.3507C>T
|
EVC2
| rs12511039 | C:0.50 | 0.482 +/- 0.093 |
Discussion
Case | Gene | DNA change* | Protein Change | Reference |
---|---|---|---|---|
Family 1
|
EVC2
| c.2047-1G>T | splicing | This study |
Family 2
|
EVC
| c.1813C>T | p.Q605X | Tompson et al., 2007 |
Family 3
|
EVC2
| c.981delG | p.K327fs
| Tompson et al., 2007 |
Family 4
| - | unknown | NA | This study |