Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review

Table 2 Variants identified by whole exome sequencing in our subject

Gene	RefGene	Variants	Mode of inheritance	Genotype	Asian frequency	ACMG guidelines	Original
PHKA2	NM_000292	c.1828A > G p.T610A	XLR	hem	–	VOUS	Maternal
CDH2	NM_001792	c.1471G > C p.V491L	AD	het	0.0002	VOUS	Maternal
CIC	NM_001386298	c.6058C > T p.P2020S	AD	het	0.0002	VOUS	Paternal
KAT6A	NM_006766	c.4825A > G p.M1609V	AD	het	0.0003	VOUS	Paternal
NALCN	NM_052867	c.1587C > G p.C529W	AR,AD	het	0.0001	VOUS	Maternal
CTC1	NM_025099	c.2386-1G > A	AR	het	0.0007	LP	Maternal
MANBA	NM_005908	c.280C > A p.Q94K	AR	het	0.0011	VOUS	Maternal

XLR X-linked recessive; AD Autosomal dominant; AR Autosomal recessive; VOUS Variants of unknown significance; LP Likely pathogenic; hem Hemizygote; het Heterozygote

ISSN: 1755-8166