Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

Table 2 Damaging, validated variants in genes previously implicated in ASD or other disorders in multiple families

Gene	Family	Position (Hg19)	dbSNP	Nucleotide	Amino acid	HIHG control chromosomes	Disorder	References
CEP290	37425	chr12:88472996	rs61941020	C > T	Arg1746Gln	3/610	ASD, ID	Coppieters et al., 2010 [39]
	37117	chr12:88508258	rs79705698	T > C	Asp664Gly	15/612	ASD, ID	Coppieters et al., 2010 [39]
CSMD1	37117	chr8:2965294	-	G > C	Pro2262Ala	2/614	ASD, SZ	Havik et al., [40]
	17122	chr8:3253832	-	C > T	Gly827Asp	0/604	ASD, SZ	Havik et al., [40]
FAT1	37037	chr4:187518041	rs72716244	T > C	Asp4218Gly	11/610	ASD, BD	Blair et al., [43], Neale et al., [15]
	17545	chr4:187549364	rs111886222	G > A	Thr1585Met	5/614	ASD, BD	Blair et al., [43], Neale et al., [15]
	17545	chr4:187557908	rs113970444	C > T	Arg1268Gln	5/608	ASD, BD	Blair et al., [43], Neale et al., [15]
SLIT3	17342, 18074	chr5:168180047	rs34260167	C > T	Ser629Asn	7/616	MD	Glessner et al., [38]
STXBP5	37994	chr6:147635108	rs144099092	A > G	Leu412Val	2/614	ASD	Davis et al., [44]
	7623	chr6:147636753	rs148830578	T > A	Try502Cys	2/614	ASD	Davis et al., [44]

ASD, autism spectrum disorder; BD, bipolar disorder; HIHG, Hussman Institute for Human Genomics; ID, intellectual disability; MD, major depression; SZ, schizophrenia.

ISSN: 2040-2392