Table 2 An assembly of genes deleted in the present patient according to the Online Mendelian Inheritance in Man (OMIM) annotation
From: Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype
Gene | OMIM annotation | Name/Possible function | Associated syndromes |
|---|---|---|---|
FLRT2 | 604807 | Fibronectin-like domain-containing leucine-rich transmembrane protein 2 | - |
C14orf4 | 611720 | Chromosome 14 open reading frame 4. | - |
SPTLC2 | 605713 | Serine palmitoyltransferase, long-chain base subunit 2. Sphingolipid biosynthesis. | Neuropathy, hereditary sensory, type IC. |
ESRRB | 602167 | Estrogen-related receptor beta. | Deafness, autosomal recessive 35. |
NRXN3 | 600567 | Neurexin III. Polymorphic cell surface protein expressed in neurons. | - |
GPR65 | 604620 | G protein-coupled receptor 65. | - |
TGFB3 | 190230 | Transforming growth factor beta-3. | Arrhythmogenic right ventricular dysplasia 1; Rienhoff Syndrome |
TTLL5 | 612268 | Tubulin tyrosine ligase-like family, member 5. Role in glucocorticoid-mediated induction and repression. | Cone-rod dystrophy 19 |
TTC8 | 608132 | Tetratricopeptide repeat domain 8. | Bardet-Biedl syndrome 8. |
FOXN3 | 602628 | Forkhead box N3. | - |
ISM2 | 612684 | Isthmin 2, zebrafish homolog. Secreted proteins with diverse functions such as cell adhesion, cell angiogenesis, and patterning of developing nervous system. | - |
KCNK10 | 605873 | Potassium channel, subfamily K, member 10. | - |
POMT2 | 607439 | Protein o-mannosyltransferase 2. | Walker-Warburg syndrome. |
DIO2 | 601413 | Deiodinase, iodothyronine, type II. A selenoprotein that catalyzes the 5-prime deiodination of thyroxine (T4) to generate an active thyroid hormone,3,3-prime,5 triiodothyronine (T3). | - |
GALC | 606890 | Lysosomal enzyme involved in the catabolism of galactosylceramide. | Krabbe disease. |
GSTZ1 | 603758 | Tyrosinemia, type Ib. | Tyrosinemia, type Ib. |
ALKBH1 | 605345 | AlkB, E. coli homolog. Protects cells from mutation and cell death caused by SN2-type alkylating agents. | - |
NGB | 605304 | Neuroglobin. Lower resistance to ischemia and neurofibrillary tangles. | Alzheimer disease. |
TSHR | 603372 | Thyroid stimulating hormone receptor | Hyperthyroidism,familial gestational. |
SPATA7 | 609868 | Spermatogenesis associated 7 | Leber congenital amaurosis 3 Retinitis pigmentosa |
SEL1L | 602329 | Suppressor of lin-12-like (C. elegans) | - |