Case Reports in Genetics / 2021 / Article / Tab 1

Case Report

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].

GeneGene locationaName%HIbFunction

ATP6V1E118,074,903–18,111,588Lysosomal ATPase, H1 transporting, 31 kDa, V1 subunit E148.8V-ATPase responsible for acidifying a variety of intracellular compartments
BID18,216,906–18,256,808BH3 interacting domain death agonist89.1Member of the BCL-2 family of cell death regulators
CECR117,660,192–17,690,779CES chromosome region, candidate 136.7Regulates the concentration of extracellular adenosine
CECR217,956,630–18,033,845CES chromosome region, candidate 252.7Putative transcriptional coactivator
IL17RA17,565,849–17,596,584Interleukin 17 receptor A37.5Proinflammatory cytokine
MICAL318,270,416–18,507,325Microtubule-associated monooxygenase calponin and LIM domain76.3Cytoplasmic semaphoring/plexin signaling molecule; expressed in motor neurons
PEX2618,560,686–18,573,797Peroxisome biogenesis factor 2698Required for protein import into peroxisomes
SLC25A1818,043,183–18,073,647Solute carrier family 25 (mitochondrial carrier)80.9Transport of glutamate across the inner mitochondrial membrane
XKR317,264,306–17,302,584XK, Kell blood group complex subunit-related familyNDComponent of the XK/Kell blood group system
USP1818,632,758–18,660,162Ubiquitin specific peptidase 18NDMember of the de-ubiquitinating protease family of enzymes
TUBA818,593,453–18,614,498Alpha tubulin isoform 8NDAssociated with polymicrogyria and optic nerve hypoplasia

aUniversity of California Santa Cruz (UCSC) database (, 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.