Table 2.
Genes with Online Mendelian Inheritance in Man (OMIM) number and their demonstrated functions, located within the three linkage peak areas with a suggestive or significant LOD score in the present study
| Gene symbol | Gene name | OMIM number(s) | Information in OMIM |
|---|---|---|---|
| Peak 2q37.2 - 2q37.3a | |||
| SH3BP4 | SH3-domain binding protein 4 | 605611 | Ubiquitously expressed |
| AGAP1 | Centaurin, gamma-2 | 608651 | Membrane traffic and actin cytoskeleton dynamics |
| GBX2 | Homeobox protein GBX-2 | 601135 | Embryonal development including the brain |
| CXCR7 | Chemokine (C-X-C motif) receptor 7 | 610376 | Cell growth, survival and adhesion |
| COL6A3 | Collagen, type VI, alpha 3 | 120250, 158810, 254090 | Collagen subunit encoding; related to Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) |
| MLPH | Melanophilin | 606526, 609227 | Pigmentation; related to Griscelli syndrome type 3 (GS3) |
| PRLH | Prolactin releasing hormone | 602663 | Regulation of lactation and pregnancy |
| RAB17 | RAB17, member RAS oncogene family | 602206 | Regulation of membrane trafficking in the epithelium |
| LRRFIP1 | Leucine rich repeat in FLII-interacting protein 1 | 603256 | Regulation of transcription |
| RAMP1 | Receptor activity modifying protein 1 | 605153 | Constituent and modifier of a calcitonin-related receptor |
| SCLY | Selenocysteine lyase | 611056 | Selenium metabolism |
| HES6 | Hairy and enhancer of split 6 (Drosophila) | 610331 | Transcriptional regulation during development |
| PER2 | Period homolog 2 (Drosophila) | 603426, 604348 | Circadian rhythm regulation; related to familial advanced sleep-phase syndrome |
| TRAF3IP1 | TRAF3-interacting protein 1 | 607380 | Formation and function of microtubules and zebrafish cilia |
| ASB1 | Ankyrin repeat and SOCS box containing 1 | 605758 | Regulation of signal transduction via suppression of cytokine signaling |
| TWIST2 | Twist homolog 2 (Drosophila) | 607556, 227260 | Cytokine signaling regulation; related to Setleis syndrome |
| HDAC4 | Histone deacetylase 4 | 605314, 600430 | Transcription repression via histone deacetylation; related to brachydactyly-mental retardation syndrome (BDMR) |
| NDUFA10 | NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10 | 603835, 256000 | Electron transport chain of mitochondria; related to the neurodegenerative Leigh syndrome (LS) |
| OTOS | Otospiralin | 607877 | Synthesized by fibrocytes in the inner ear; related to deafness in guinea pigs |
| GPC1 | Glypican 1 | 600395 | Endostatin binding |
| RNPEPL1 | Arginyl aminopeptidase-like 1 | 605287 | Ubiquitously expressed |
| CAPN10 | Calpain 10 | 605286, 601283 | Susceptibility gene for type II diabetes (NIDDM) |
| GPR35 | G-protein-coupled receptor 35 | 602646 | Transduction of signals into intracellular effects |
| AQP12A | Aquaporin 12A | 609789 | Pancreas-specific expression |
| KIF1A | Kinesin family member 1A | 601255, 610357, 614213, 614255 | Transport of synaptic-vesicle precursors along axons; related to autosomal dominant mental retardation (MRD9), hereditary sensory neuropathy type IIC (HSN2C) and autosomal recessive spastic paraplegia (SPG30) |
| AGXT | Alanine-glyoxylate aminotransferase | 604285, 259900 | Peroxisomal liver enzyme; related to type I primary hyperoxaluria (HP1) |
| PASK | PAS domain containing serine/threonine kinase | 607505 | Glycogen synthesis; Drosophila homolog involved in wrapping of axons by glial cells |
| PPP1R7 | Protein phosphatase 1, regulatory subunit 7 | 602877 | Constituent and modifier of a protein phosphatase |
| ANO7 | Anoctamin 7 | 605096 | Expressed in prostate |
| HDLBP | High-density lipoprotein binding protein | 142695 | Binds high-density lipoprotein molecules, may remove excess cellular cholesterol |
| SEPT2 | Septin 2 | 601506 | Coupling of DNA damage response regulation to the cytoskeleton |
| STK25 | Serine/threonine protein kinase 25 | 602255 | Epithelial and neuronal cell polarity and axon outgrowth |
| BOK | BCL2-related ovarian killer | 605404 | Apoptosis in the ovary |
| THAP4 | THAP domain containing 4 | 612533 | Protein coding |
| ATG4B | ATG4 autophagy related 4 homolog B (S. cerevisiae) | 611338 | Autophagy (in yeast) |
| DTYMK | Deoxythymidylate kinase | 188345 | Phosphorylation catalyzing enzyme in DNA synthesis |
| ING5 | Inhibitor of growth family, member 5 | 608525 | Regulation of cell cycle |
| D2HGDH | d-2-hydroxyglutarate dehydrogenase | 609186, 600721 | Dehydrogenase enzyme; related to d-2-hydroxyglutaric aciduria (D2HGA1) |
| GAL3ST2 | Galactose-3-O-sulfotransferase 2 | 608237 | Sulfate group transfering enzyme |
| NEU4 | Sialidase 4/neuraminidase 4 | 608527 | Enzyme cleaving terminal sialic acid residues |
| PDCD1 | Programmed cell death 1 | 600244, 126200, 152700, 605218 | Cell surface receptor involved in immunomodulation; related to systemic lupus erythematosus and multiple sclerosis |
| Peak in 3p12.2 - 3p12.3b | |||
| ROBO2 | Roundabout, axon guidance receptor, homolog 2 (Drosophila) | 602431, 610878 | Axon guidance receptor; related to vesicoureteral reflux 2 (VUR2) |
| ROBO1 | Roundabout, axon guidance receptor, homolog 1 (Drosophila) | 602430, 606896 | Axon guidance receptor; candidate gene for dyslexia susceptibility 5 (DYX5) |
| GBE1 | Glucan (1,4-α-), branching enzyme 1 | 607839, 232500 | Glycogen synthesis; related to glycogen storage disease IV |
| Peak in 8q24.3c | |||
| TRAPPC9 | Trafficking protein particle complex 9 | 611966, 613192 | Neuronal signaling pathway; related to autosomal recessive mental retardation (MRT13) |
a+59 genes without OMIM information: 9 pseudogenes, 7 micro-RNAs, 17 hypothetical loci, 2 open reading frames, and 24 others.
b+9 genes without OMIM information: seven pseudogenes, one microRNA, and one other.
c+3 genes without OMIM information: two hypothetical loci and one pseudogene.