Table 1.
Genes included in the duplicated region of the two brothers, clustered by disease association
| Gene symbol | Gene description | Disease association | |
|---|---|---|---|
| Acromegaly Gigantism | GPR101 | G protein-coupled receptor 101 | X-linked acro-gigantism (X-LAG),pituitary adenoma, excessive GH secretion and rapid growth beginning in early childhood |
| Short stature | MOSPD1 | Motile sperm domain containing protein 1 | Short stature and abnormal right ventricle development |
| Cancer |
LINC00629 CXorf48 |
Long intergenic non-protein coding RNA 629 Chromosome X open reading frame 48 |
Gastric cancer Chronic myeloid leucemia |
| LINC00086 | Long intergenic non-protein coding RNA 86 | Gastric cancer | |
| CT45A1 | Cancer/testis antigen family 45, member A1 | ||
| CT45A3 | Cancer/testis antigen family 45, member A3 | ||
| CT45A4 | Cancer/testis antigen family 45, member A4 | ||
| CT45A5 | Cancer/testis antigen family 45, member A5 | ||
| CT45A6 | Cancer/testis antigen family 45, member A6 | ||
| SAGE1 | Sarcoma antigen 1 | Glioma and urothelial Cancer | |
| VGLL1 | Vestigial like 1 (Drosophila) | ||
| Intellectual disability | PHF6 | PHD finger protein | Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by intellectual disability (ID), epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears |
| FGF13 | Fibroblast growth factor 13 | Borjeson-Forssman-Lehmann syndrome (BFLS) | |
| SLC9A6 | Solute carrier family 9, subfamily A | Intellectual disability (ID), X-linked syndromic cognitive disability, Christianson type | |
| RBMX | RNA binding motif protein, X-linked | X-linked intellectual disability syndrome | |
| HPRT1 | Hypoxanthine phosphoribosyltransferase 1 | Lesch-Nyhan syndrome (neurological and behavioural abnormalities and the overproduction of uric acid) | |
| SOX3 | SRY (sex determining region Y)-box 3 | X-linked intellectual disability (ID) with growth hormone deficiency (GDH), X-linked hypopituitarism, 46,XX, Disorder of Sex Development (DSD) and neural tube defects (NTD) | |
| Reproduction | MIR503HG | MIR503 host gene (non-protein coding) | Pre-Eclampsia |
| PLAC1 | Placenta-specific 1 (PLAC1) | Pre-Eclampsia | |
| Mir_1302 | Rfam model RF00951 hit found at contig region AL672032.6/126123-126174 | Recurrent embryo implantation failure (RIF), male infertility | |
| Hematologic diseases | F9 | Coagulation factor IX (F9) | Factor IX deficiency, also called haemophilia B or Christmas disease |
| ATP11C | ATPase, class VI, type 11C | Congenital haemolytic anaemia | |
| Other | MIR503 | microRNA 503 | Tumor suppression |
| CD40LG | CD40 ligand (CD40LG) | Hyper-IgM syndrome | |
| ZIC3 | Zic family member 3 | Heterotaxy and congenital heart disease | |
| DDX26B | DEAD/H box polypeptide 26B | Autism spectrum disorder | |
| FHL1 | Four and a half LIM domains 1 | Emery-Dreifuss muscular dystrophy, Reducing body myopathy (RBM), Uruguay faciocardiomusculoskeletal syndrome |