Background
Methods
A: Sampling and DNA extraction
B: Clinical Assessments
C: Molecular Assessments
(i) Genome-wide scan
(ii) PCR based deletion break-point mapping
Results
Clinical description
Clinical Findings | IV-12 | IV-14 | IV-13 | IV-6 | IV-10 | IV-11 |
---|---|---|---|---|---|---|
Sex | Female | Female | Female | Male | Male | Male |
Age on assessment | 15 years | 10 years | 13 years | 18 years | 10 years | 11 years |
Developmental delay | + | + | + | + | + | + |
Head Circumference | 52 | 51 cm | 51 | Not Available | 52 cm | 50 cm |
Speech Development | + | + | + | + | + | + |
Dysmorphic feature | - | - | - | - | - | - |
Skeletal Problem | - | - | - | - | - | - |
Ophthalmological problem | - | - | - | - | - | - |
Epilepsy | - | + | - | - | - | - |
Mental retardation | Severe | Severe | Severe | Severe | Severe | Severe |
Growth | Normal | Normal | Weak | Normal | Normal | Normal |
Schooling | - | - | - | - | - | - |
Learning Disability | + | + | + | + | + | + |
Muscular dystrophy | - | - | - | - | - | - |
Self biting | - | - | - | - | - | - |
Molecular studies
(i) Genome-wide Homozygosity mapping and CNV analysis
Markers | Genetic Position in cM (Rutgers map, build 36) | Physical Position in bp {Feb.2009 (GRCh37/hg19} | Two point LOD Score | Multipoint LOD Score |
---|---|---|---|---|
D8S1781 | 6.8 | 3678400 | 2.2342 | 4.2286 |
D8S262 | 7.13 | 3777275 | 1.0814 | 4.2143 |
D8S518 | 9.88 | 4587958 | 0.5706 | 1.456 |
rs6989820 | - | 5041417 | -3.8284 | -4.0196 |
D8S1140 | 11.96 | 5617059 | 3.1114 | 2.9368 |
D8S277 | 14.92 | 6616946 | 2.9565 | 5.0000 |
D8S351 | 18.94 | 8877155 | 3.0286 | 5.1617 |
D8S1469 | 19.38 | 9090104 | 1.523 | 5.1693 |
D8S1721 | 19.7 | 10240822 | 1.8241 | 5.1717 |
D8S550 | 20.85 | 10981913 | - Infinity | - Infinity |
D8S552 | 24.76 | 12842458 | 2.9823 | 5.1646 |
D8S1106 | 24.76 | 12936149 | 3.2113 | 5.1646 |
D8S1790 | 26.35 | 13166462 | 3.2843 | 5.1229 |
D8S1731 | 27.95 | 15338590 | 1.3825 | 4.5748 |
rs2237834 | - | 17479493 | -3.8284 | -4.4686 |
D8S1145 | 32.78 | 18452816 | - Infinity | - Infinity |
D8S298 | 40.11 | 21862145 | - Infinity | - Infinity |