Molecular basis for phenotypic similarity of genetic disorders

Vijay Kumar Pounraja, Santhosh Girirajan

Research output: Contribution to journalArticle

Abstract

The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome that has phenotypes similar to those of Smith-Magenis syndrome (a disorder caused by disruption of RAI1). This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders.

Original languageEnglish (US)
Article number24
JournalGenome Medicine
Volume11
Issue number1
DOIs
StatePublished - Apr 23 2019

Fingerprint

Inborn Genetic Diseases
Phenotype
Smith-Magenis Syndrome
Overlapping Genes
Genes
Mutation

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

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Molecular basis for phenotypic similarity of genetic disorders. / Pounraja, Vijay Kumar; Girirajan, Santhosh.

In: Genome Medicine, Vol. 11, No. 1, 24, 23.04.2019.

Research output: Contribution to journalArticle

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