Gene symbol | Gene name | OMIM # | Function |
---|---|---|---|
Proband 1 with 1.24Â Mb deletion at 1q21 | |||
  PRKAB2 | AMP-activated kinase complex noncatalytic beta-2 | 602741 | Maintains systemic and cellular energy homeostasis |
  FMO5 | Flavin-containing monooxygenase 5 | 603957 | Involved in the metabolic activation of drugs and xenobiotic compounds |
  CHD1L | Chromodomain helicase DNA-binding protein 1-like | 613039 | Has a role in chromatin modification and DNA damage response |
  BCL9 | B-cell CLL/lymphoma 9 | 602597 | A signal transduction protein required for efficient beta-catenin-mediated transcription in Wnt signaling pathway |
  ACP6 | Acid phosphatase 6 | 611471 | Hydrolyzes lysophosphatidic acid containing fatty acid |
  GJA5 | Gap junction protein, alpha-5 | 121013 | A cardiac gap junction protein connexin 40 that facilitates cell-to-cell adhesion and intercellular communication |
  GJA8 | Gap junction protein, alpha-8 | 600897 | A transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells |
  GPR89B | G protein-coupled receptor 89B | 612806 | Voltage dependent anion channel regulating the acidification and function of Golgi apparatus |
  NBPF11 | Neuroblastoma breakpoint family, member 11 | 614001 | A member of the NBPF family and diseases associated with NBPF11 include neuroblastoma |
Proband 2 with 508Â kb duplication at Xq28 | |||
 L1CAM | L1 cell adhesion molecule | 308840 | Belongs to immunoglobulin superfamily cell adhesion molecules and has a role in neuronal migration and survival |
 AVPR2 | arginine vasopressin receptor 2 | 300538 | G protein-coupled receptor involved in the regulation of the urine and water homeostasis in kidney |
 ARHGAP4 | Rho GTPase activating protein 4 | 300023 | Regulates the function of small GTP-binding proteins belonging to the RAS superfamily |
 NAA10 | N(alpha)-acetyltransferase 10, NatA catalytic subunit | 300013 | Catalytic subunit of the N-terminal acetyltransferase A complex, which transfers an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide |
 RENBP | renin binding protein | 312420 | Inhibits renin by forming a dimer with renin and involved in transport to the Golgi and synthesis of substrates in N-glycan biosynthesis |
 HCFC1 | host cell factor C1 | 300019 | Involved in cell cycle regulation and functions as a transcription repressor by inhibiting the recruitment of p300 to promoter. Mutations of this gene cause non-syndromic X-linked intellectual disability and X-linked cobalamin disorder. |
 TMEM187 | transmembrane protein 187 | 300059 | A multi-pass membrane protein, but its biological function is not determined |
 IRAK1 | interleukin 1 receptor associated kinase 1 | 300283 | A putative serine/threonine kinase that plays a critical role in immune response and become associated with the IL-1 receptor |
 MECP2 | methyl-CpG binding protein 2 | 300005 | Specifically binds to a single methyl-CpG pair and mediates transcriptional repression through interaction with histone deacetylase and a corepressor |
 OPN1LW | opsin 1 (cone pigments), long-wave-sensitive | 300822 | Long-wavelength sensitive opsin, transmembrane receptor protein with a visual pigment, which is a light-absorbing molecules that mediate vision |
 OPN1MW | opsin 1 (cone pigments), medium-wave-sensitive | 300821 | Medium-wavelength sensitive opsin, transmembrane receptor protein with a visual pigment, which is a light-absorbing molecules that mediate vision |
 TEX28 | testis expressed 28 | 300092 | A member of the red/green cone visual pigment gene family |
 TKTL1/TKT2 | transketolase-like 1/transketolase 2 | 300044 | A thiamine-dependent enzyme that links the pentose phosphate pathway with the glycolytic pathway. |
 FLNA | Filamin A | 300017 | An actin-binding protein involved in the reorganization of cytoskeletion to effect in cell migration |
 EMD | emerin | 300384 | A nuclear membrane protein that associates with the nuclear membrane lamina and mediates membrane anchorage to the cytoskeleton |