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Table 3 Families with multiple damaging, validated variants in the same, previously implicated gene

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

Gene

Family

Position (Hg19)

dbSNP

Nucleotide

Amino acid

HIHG control chromosomes

Disorder

References

ABHD14A

17351

chr3:52011912

rs17849626

G > A

Arg32Gln

25/614

ASD

Casey et al., [53]

  

chr3:52014897

rs61729088

C > G

Arg227Gly

2/616

ASD

Casey et al., [53]

FAT1

17545

chr4:187549364

rs111886222

G > A

Thr1584Met

5/614

ASD, BD

Blair et al., [43], Neale et al., [15]

  

chr4:187557908

rs113970444

C > T

Arg1268Gln

5/608

ASD, BD

Blair et al., [43], Neale et al., [15]

OFCC1

7606

chr6:9809860

-

C > T

Arg538Gln

0/602

TS

Sundaram et al., [51]

  

chr6:9900660

rs148761621

C > A

Glu204Stop

0/614

TS

Sundaram et al., [51]

PRICKLE1

37232

chr12:42862463

rs61924369

C > T

Glu185Lys

0/614

E

Bassuk et al., [47], Tao et al., [49]

  

chr12:42864125

-

C > G

Val57Leu

0/614

E

Bassuk et al., [47], Tao et al., [49]

  1. ASD, autism spectrum disorder; BD, bipolar disorder; E, epilepsy; HIHG, Hussman Institute for Human Genomics; TS, Tourette syndrome.