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Table 2 List of affected genes in probands 1 and 2

From: The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

Gene symbol Gene name OMIM # Function
Proband 1 with 1.24 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 508 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