Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome

Hiroyuki Yamagishi, Deepak Srivastava

Research output: Contribution to journalReview articlepeer-review

106 Citations (Scopus)


Birth defects occur in nearly 5% of all live births and are the major cause of infant mortality and morbidity. Despite the recent progress in molecular and developmental biology, the underlying genetic etiology of most congenital anomalies remains unknown. Heterozygous deletion of the 22q11.2 locus results in the most common human genetic deletion syndrome, known as DiGeorge syndrome, and has served as an entry to understanding the basis for numerous congenital heart and craniofacial anomalies, among many other defects. Extensive human genetic analyses, mouse modeling and studies of developmental molecular cascades involved in 22q11 deletion syndrome are revealing complex networks of signaling and transcriptional events that are essential for normal embryonic development. Armed with this knowledge, we can now begin to consider the multiple genetic 'hits' that might contribute to developmental anomalies, some of which could provide targets for in utero prevention of birth defects.

Original languageEnglish
Pages (from-to)383-389
Number of pages7
JournalTrends in Molecular Medicine
Issue number9
Publication statusPublished - 2003 Sept 1
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology


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