Table 2.
Exome sequencing in human diseases
| Disease | MIM # | Inheritance | Capture platform | Sequencing Technology | Samples | Identified gene | Reference |
|---|---|---|---|---|---|---|---|
| Congenital chloride diarrhea | #214700 | AR | Roche NimbleGen | Illumina | 1 affected | SLC26A3 | 40 |
| Miller syndrome | #263750 | AR | Agilent SureSelect | Illumina | 4 affecteds (1 sib-pair) | DHODH* | 41 |
| Schinzel-Giedion syndrome | #269150 | AD | Agilent SureSelect | SOLiD | 4 unrelated affecteds | SETBP1* | 42 |
| Nonsyndromic hearing loss DFNB82 | #613557 | AR | Agilent SureSelect | Illumina | 1 affected in family | GPSM2* | 46 |
| Perrault syndrome | #233400 | AR | Agilent SureSelect | Illumina | 1 affected in family | HSD17B4* | 47 |
| Kabuki syndrome | #147920 | AD | Agilent SureSelect | Illumina | 10 unrelated affecteds | MLL2* | 43 |
| Severe brain malformations | #600176 | AR | Roche NimbleGen | Illumina | 1 affected in family | WDR62* | 48 |
| Sensenbrenner syndrome/cranioectodermal dysplasia (CED) | #613610 | AR | Agilent SureSelect | SOLiD | 2 unrelated affecteds | WDR35* | 49 |
| Mabry syndrome/hyperphosphatasia with mental retardation | #239300 | AR | Agilent SureSelect | SOLiD | 3 affected siblings | PIGV* | 50 |
| Autosomal-dominant spinocerebellar ataxia | AD | Roche NimbleGen | Illumina | 4 related affecteds | TGM6* | 51 | |
| Mental retardation | AD | Agilent SureSelect | SOLiD | 10 parent-case trios | DYNC1H1, ZNF599*, RAB39B, YY1, BPIL3*, PGA5*, DEAF1, CIC, SYNGAP1, JARID1C | 52 | |
| Mitochondrial complex I deficiency | #611126 | AR | Agilent SureSelect | SOLiD | 1 affected | ACAD9* | 53 |
| Familial combined hypolipidemia | #605019 | AR | Agilent SureSelect | Illumina | 2 related affecteds | ANGPTL3* | 54 |
| Amyotrophic lateral sclerosis | AD | Agilent SureSelect | Illumina | 2 related affecteds | VCP* | 55 | |
| Autoimmune lymphoproliferative syndrome (ALPS) | #601859 | AR | Agilent SureSelect | Illumina | 1 affected | FADD* | 56 |
| Seckel syndrome | #210600 | AD | Agilent SureSelect | Illumina | 1 affected | CEP152* | 57 |
| CMT1X | #302800 | XL | Agilent SureSelect | Illumina | 2 related affecteds | GJB1 | 58 |
| Inflammatory bowel disease/X-linked inhibitor of apoptosis deficiency | XL | Roche NimbleGen | Roche 454 | 1 affected | XIAP | 44 | |
| Severe skeletal dysplasia | AR | Roche NimbleGen | Illumina | 2 affecteds and parents | POP1* | 59 | |
| Hajdu-Cheney syndrome (HCS) | #102500 | AD | Agilent SureSelect | Illumina | 3 unrelated affecteds | NOTCH2* | 60 |
| Osteogenesis imperfecta (OI) | AR | Agilent SureSelect | SOLiD | 1 affected in family | SERPINF1* | 61 | |
| Hereditary hypotrichosis simplex (HHS) | AD | Roche NimbleGen | Illumina | 1 affected in family | RPL21* | 62 | |
| Acne inversa/hidradenitis suppurativa | #142690 | AD | Agilent SureSelect | Illumina | 2 affecteds in family | NCSTN | 63 |
| Primary lymphoedema | AD | Agilent SureSelect | Illumina | 1 affected in family | GJC2* | 64 | |
| Hereditary sensory neuropathy with dementia and hearing loss (HSAN1) | #162400 | AR | Agilent SureSelect/Nimblegen | Illumina/Roche 454 | 4 kindreds | DNMT1* | 65 |
| Hereditary spastic paraparesis (HSP) | AR | Agilent SureSelect | Illumina | 1 parent-case trio | KIF1A* | 66 | |
| Hereditary progeroid syndrome | AR | Agilent SureSelect | Illumina | 2 affecteds | BANF1* | 67 | |
| Chondrodysplasia and abnormal joint development | AR | Agilent SureSelect | SOLiD | 3 affecteds | IMPAD1* | 68 | |
| Amelogenesis imperfecta and gingival hyperplasia syndrome | AR | Agilent SureSelect | SOLiD | 1 affected | FAM20A* | 69 | |
| Hypertrophic mitochondrial cardiomyopathy | AR | Agilent SureSelect | Illumina | 1 affected | AARS2* | 70 | |
| Mosaic variegated aneuploidy syndrome (MVA) | #257300 | AR | Agilent SureSelect | Illumina | 2 affected siblings | CEP57* | 71 |
| Autism spectrum disorder (ASD) | AD | Roche NimbleGen | Illumina | 20 parent-case trios | Potential genes identified | 72 | |
| Immunodeficiency–centromeric instability–facial anomalies syndrome type 2 (ICF2) | #614069 | AR | Roche NimbleGen | Illumina | 1 affected | ZBTB24* | 73 |
| High myopia | AD | Roche NimbleGen | Illumina | 2 affecteds | ZNF644* | 74 | |
| 3-M syndrome | AR | Agilent SureSelect | SOLiD | 3 affecteds | CCDC8* | 75 | |
| Late-onset Parkinson disease | #168600 | AD | Agilent SureSelect & Roche Nimblegen | Illumina | 2 affecteds & 2 affecteds | VPS35* | 76, 77 |
| Leber congenital amaurosis (LCA) | #204000 | AR | Agilent SureSelect | Illumina | 1 affected | KCNJ13* | 78 |
| Gray platelet syndrome (GPS) | #139090 | AR | Agilent SureSelect | Illumina | 4 affecteds | NBEAL2* | 79 |
| KBG syndrome | #148050 | AD | Roche NimbleGen | Illumina | 3 affecteds | ANKRD11* | 80 |
| Hereditary pheochromocytoma (PCC) | #171300 | AD | Agilent SureSelect | Illumina | 3 affecteds | MAX* | 81 |
| Bohring-Opitz syndrome | #605039 | AD | Agilent SureSelect | SOLiD | 3 affecteds | ASXL1* | 82 |
| Acromicric and geleophysic dysplasias | #231050 | AR | Agilent SureSelect | SOLiD | 2 affecteds | FBN1 | 83 |
| Hajdu-Cheney syndrome (HCS) | #102500 | AD | Agilent SureSelect | Illumina | 6 affecteds | NOTCH2* | 84 |
| Mitochondrial cardiomyopathy | AR | Agilent SureSelect | Illumina | 1 affected | MRPL3* | 85 | |
| Proteus syndrome | #176920 | somatic | Agilent SureSelect | Illumina | 17 samples from 12 affecteds | AKT1* | 45 |
*
Novel disease gene.