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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