Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Table 4 Genotypes of patients with SSRIDDs (ARID1B: NM_020732.3, SMARCA4: NM_001128845.1, SMARCB1: NM_001007468.2, SMARCA2: NM_003070.5)

ID	Gene	Diagnosis	Nucleotide change	Amino acid change	Exon	Inheritance	Known mutation	Interpretation
1	ARID1B	CSS	c.1311C > G	p.Tyr437*	1	De novo	Novel	Pathogenic
2	ARID1B	CSS	c.1612C > T	p.Gln538*	2	De novo	Known	Pathogenic
3	ARID1B	A-ID	c.2362C > T	p.Gln788*	7	De novo	Known	Pathogenic
4	ARID1B	CSS	c.2692C > T	p.Arg898*	9	De novo	Known [8]	Pathogenic
5	ARID1B	CSS	arr 6q25.3 (157,482,390_157,561,632) × 1, 34 kb deletion		Deletion from exon 10 to 18^a	ND^b	Novel	Pathogenic
6	ARID1B	CSS	c.3345 + 1G > A	–	Intron 12	De novo	Novel	Pathogenic
7	ARID1B	CSS	c.4849C > T	p.Gln1617*	18	De novo	Novel	Pathogenic
8	ARID1B	CSS	c.5725del	p.Gln1909Lysfs*65	20	De novo	Novel	Pathogenic
9	SMARCA4	CSS	c.3128G > T	p.Arg1043Leu	22	De novo	Novel	Likely pathogenic
10	SMARCB1	CSS	c.1087A > G	p.Lys363Glu	8	De novo	Known	Pathogenic
11	ARID2	CSS	arr 12q12-13.11 (43,005,992_46,669,000) × 1, 3.7 Mb deletion		Haploinsufficiency	De novo	Known [19]	Pathogenic
12	SMARCA2	NCBRS	c.3479C > G	p.Ala1160Gly	25	De novo	Novel	Pathogenic

SSRIDDs, switch/sucrose nonfermenting complex-related intellectual disability disorders; CSS, Coffin–Siris syndrome; A-ID, ARID1B-related intellectual disability, NCBRS, Nicolaides–Baraitser syndrome
^aMultiplex ligation-dependent probe amplification confirmed a microdeletion from exons 10 to 18 of ARID1B
^bND, No data. Parental genetic testing was not performed

ISSN: 1755-8794