A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Table 2 Summarization of SHANK3 gene variants in 9 patients with PMS

Patient	Variant location^a	Variant type	Protein change	Inheritance	Literature report	MutationTaster	ACMG classification
P7	c.3120delC	Frameshift	p. Gly1041Alafs*37(Het)	NK	–	Disease causing	Likely pathogenic
P10	c.3372dupC	Frameshift	p. Ser1125Leufs*171(Het)	De novo	–	Disease causing	Pathogenic
P11	c.3526G > T	Nonsense	p. Glu1176*(Het)	De novo	–	Disease causing	Pathogenic
P12	c.4086_4087delAC	Frameshift	P. Arg1363Glnfs*31(Het)	NK	Nature. 2017;542(7642):433–438	Disease causing	Pathogenic
P13	c.3679dupG	Frameshift	p. Ala1227Glyfs*69(Het)	De novo	Nat Genet. 2007;39(1):25‐27	Disease causing	Pathogenic
P14	c.3679dupG	Frameshift	p. Ala1227Glyfs*69(Het)	NK	Nat Genet. 2007;39(1):25‐27	Disease causing	Pathogenic
P22	c.3088delC	Frameshift	p. Leu1030Cysfs*48(Het)	De novo	–	Disease causing	Pathogenic
P24	c.3942delC	Frameshift	p. Ser1315fs*71(Het)	De novo	–	Disease causing	Pathogenic
P28	c.3838_3839insGG	Frameshift	p. V1280Gfs*5(Het)	De novo	–	Disease causing	Pathogenic

NK not known, * the stop codon, ACMG American College of Medical Genetics and Genomic
^aNM_033517.1
^bNP_277052.1

ISSN: 1750-1172