A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome

Table 1

Known protein coding genes and their function in the 22q11.1q11.21 (16,888,899–18,644,241), 1.76 Mb duplicated CES region [4].

Gene	Gene location^a	Name	%HI^b	Function
ATP6V1E1	18,074,903–18,111,588	Lysosomal ATPase, H1 transporting, 31 kDa, V1 subunit E1	48.8	V-ATPase responsible for acidifying a variety of intracellular compartments
BID	18,216,906–18,256,808	BH3 interacting domain death agonist	89.1	Member of the BCL-2 family of cell death regulators
CECR1	17,660,192–17,690,779	CES chromosome region, candidate 1	36.7	Regulates the concentration of extracellular adenosine
CECR2	17,956,630–18,033,845	CES chromosome region, candidate 2	52.7	Putative transcriptional coactivator
IL17RA	17,565,849–17,596,584	Interleukin 17 receptor A	37.5	Proinflammatory cytokine
MICAL3	18,270,416–18,507,325	Microtubule-associated monooxygenase calponin and LIM domain	76.3	Cytoplasmic semaphoring/plexin signaling molecule; expressed in motor neurons
PEX26	18,560,686–18,573,797	Peroxisome biogenesis factor 26	98	Required for protein import into peroxisomes
SLC25A18	18,043,183–18,073,647	Solute carrier family 25 (mitochondrial carrier)	80.9	Transport of glutamate across the inner mitochondrial membrane
XKR3	17,264,306–17,302,584	XK, Kell blood group complex subunit-related family	ND	Component of the XK/Kell blood group system
USP18	18,632,758–18,660,162	Ubiquitin specific peptidase 18	ND	Member of the de-ubiquitinating protease family of enzymes
TUBA8	18,593,453–18,614,498	Alpha tubulin isoform 8	ND	Associated with polymicrogyria and optic nerve hypoplasia

^aUniversity of California Santa Cruz (UCSC) database (http://genome.ucsc.edu/), UCSC Genome Browser, human genome 19/build 37. ^bHaploinsufficiency Score (HI index): high ranks (e.g., 0–10%) indicate a gene is more likely to exhibit haploinsufficiency and low ranks (e.g., 90–100%) indicate a gene is more likely to NOT exhibit haploinsufficiency (Huang et al., 2010). CES, cat-eye syndrome; HI, haploinsufficiency score; ND, not determined.