TABLE I.
Genes and Related Disorders Within the Deleted Region of 8q13
| Genes | OMIM No. | Name | Disorder | Deleted in patient |
|---|---|---|---|---|
| EYA1 | 601653 | Eyes absent, Drosophila, homolog of, 1 | BOR syndrome (AD) | 1, 2, 3 |
| LACTB2 | Lactamase, beta 2 | 1, 2, 3 | ||
| TRAM1 | 605190 | Translocation-associating membrane protein 1 | 1, 2, 3 | |
| NCOA2 | 601993 | Nuclear receptor coactivator 2 | 1, 2, 3 | |
| PRDM14 | 611781 | PR domain-containing protein 14 | 1,2,3 | |
| SLCO5A1 | Solute carrier organic anion transporter family, member 5A1 | 1, 2, 3 | ||
| SULF1 | 610012 | Sulfatase 1 | 1, 2, 3 | |
| PREX2 | 612139 | DEP domain-containing protein 2 | 2, 3 | |
| CPA6 | 609562 | Carboxypeptidase A6 | 3 | |
| ARFGEF1 | 604141 | ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) | 3 | |
| CSPP1 | 611654 | Centrosome spindle pole-associated protein 1 | 3 | |
| COPS5 | 604850 | COP9, subunit 5 | 3 | |
| C8orf45 | Homo sapiens chromosome 8 open reading frame 45 | 3 | ||
| SGK3 | 607591 | Serum/glucocorticoid-regulated kinase-like protein | 3 | |
| VCPIP1 | 611745 | VCP/p47 complex-interacting protein 1 | ||
| MYBL1 | 159405 | V-Myb Avian Myeloblastosis viral oncogene homolog-like 1 | 3 | |
| C8orf46 | Homo sapiens chromosome 8 open reading frame 46 | 3 | ||
| ADHFE1 | 611083 | Alcohol dehydrogenase, iron-containing, 1 | 3 | |
| RRS1 | RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) | 3 | ||
| CRH | 122560 | Corticotropin-releasing hormone | 3 | |
| TRIM55 | Tripartite motif-containing 55 | 3 | ||
| DNAJC5B | DnaJ (Hsp40) homolog, subfamily C, member 5 beta | 3 | ||
| PDE7A | 171885 | Phosphodiesterase 7A | 3 | |
| MTFR1 | Mitochondrial fission regulator 1, nuclear gene encoding mitochondrial protein | 3 | ||
| CYP7B1 | 603711 | Cytochrome p450, family 7, subfamily B, polypeptide 1 | Congenital bile acid synthesis defect; Spastic Paraplegia 5A (AR) | 3 |
| BHLHE22 | Basic helix-loop-helix family, member e22 | 3 | ||
| YTHDF3 | YTH domain family, member 3 | 3 | ||
| TTPA | 600415 | Tocopherol transfer protein, alpha | Ataxia, friedreich-like with vitamin E deficiency (AVED) (AR) | 3 |
| GGH | 601509 | Gamma-glutamyl hydrolase | 3 |
AR, autosomal recessive; AD, autosomal dominant.