Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0036341 (
schizophrenia
)
60,220
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Whole-exome sequencing (WES) studies have shown that de-novo variants contribute to the genetic etiology of
schizophrenia
. WES studies of families with a monozygotic twin pair concordant or discordant for a disease may be fruitful for identifying de-novo pathogenic variants. Here, we performed WES in six individuals from one family (affected monozygotic twins, their unaffected parents, and two siblings) and identified three de-novo missense variants (CPT2 Ala283Thr, CPSF3 Val584Ile, and
RNF148
Val210Ile) in the monozygotic twin pair concordant for
schizophrenia
. These three missense variants were not found in 1760 patients with
schizophrenia
or schizoaffective disorder or 1508 healthy controls. Our data do not support the role of the three missense variants in conferring risk for
schizophrenia
.
...
PMID:Whole-exome sequencing in a family with a monozygotic twin pair concordant for schizophrenia and a follow-up case-control study of identified de-novo variants. 3210 27
