RGD Reference Report - Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy. - Rat Genome Database

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Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy.

Authors: Xu, Ying-Jia  Wang, Zhang-Sheng  Yang, Chen-Xi  Di, Ruo-Min  Qiao, Qi  Li, Xiu-Mei  Gu, Jia-Ning  Guo, Xiao-Juan  Yang, Yi-Qing 
Citation: Xu YJ, etal., J Cardiovasc Transl Res. 2019 Jun;12(3):257-267. doi: 10.1007/s12265-018-9851-8. Epub 2018 Dec 10.
RGD ID: 243049244
Pubmed: PMID:30536204   (View Abstract at PubMed)
DOI: DOI:10.1007/s12265-018-9851-8   (Journal Full-text)

Dilated cardiomyopathy (DCM) is the most prevalent cause of non-ischemic cardiac failure and the commonest indication for cardiac transplantation. Compelling evidence highlights the pivotal roles of genetic defects in the occurrence of DCM. Nevertheless, the genetic determinants underpinning DCM remain largely obscure. In this study, the coding regions of ISL1, which encodes a transcription factor critical for embryonic cardiogenesis and postnatal cardiac remodeling, were sequenced in 216 unrelated patients with DCM, and a novel heterozygous ISL1 mutation, NM_002202.2: c.631A>T; p.(Lys211*), was identified in a proband. The mutation, which co-segregated with DCM in the family, was absent in 238 unrelated controls, as well as in the Genome Aggregation and the Exome Aggregation Consortium population databases. Functional analyses unveiled that the mutant ISL1 protein lost transcriptional activity alone or in synergy with TBX20 or GATA4, two other transcription factors associated with DCM. These findings indicate ISL1 as a new gene of DCM.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ISL1Humandilated cardiomyopathy  IAGP DNA:mutation:cds:c.631A>T(human)RGD 
Isl1Ratdilated cardiomyopathy  ISOISL1 (Homo sapiens)DNA:mutation:cds:c.631A>T(human)RGD 
Isl1Mousedilated cardiomyopathy  ISOISL1 (Homo sapiens)DNA:mutation:cds:c.631A>T(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Isl1  (ISL LIM homeobox 1)

Genes (Mus musculus)
Isl1  (ISL1 transcription factor, LIM/homeodomain)

Genes (Homo sapiens)
ISL1  (ISL LIM homeobox 1)

Additional Information