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HEY2 mutations in malformed hearts

โœ Scribed by Stella Marie Reamon-Buettner; Juergen Borlak

Book ID
102265892
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
118 KB
Volume
27
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

The basic helix-loop-helix (bHLH) transcription factor Hey2 (gridlock) is an important determinant of mammalian heart development, but its role in human ventricular septal defects is unknown. Hey2 functions as a repressor through the bHLH domain. By direct sequencing, we analyzed the sequences encoding the bHLH domain of the human HEY2 in 52 explanted hearts of unrelated patients with complex cardiac malformations, notably ventricular (VSD) and atrioventricular septal defects (AVSD). We found three nonsynonymous mutations, namely, c.286A>G (p.Thr96Ala), c.293A>C (p.Asp98Ala), and c.299T>C (p.Leu100Ser) affecting the second helix of HEY2 in the diseased cardiac tissues of two patients with AVSD. This result suggests a possible role of HEY2 in the regulation of ventricular septation in humans. Since the two AVSD patients carried also binding domain mutations in other cardiac-specific transcription factors, e.g. NKX2-5, TBX5, and GATA4, breakdown of combinatorial interactions of transcription factors may have contributed to the complexity of their cardiac malformations.

๐Ÿ“œ SIMILAR VOLUMES

TBX5 mutations in Non-Holt-Oram Syndrome
TBX5 mutations in Non-Holt-Oram Syndrome (HOS) malformed hearts
โœ Stella Marie Reamon-Buettner; Juergen Borlak ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 39 KB

## Communicated by Martin Bobrow The T-box transcription factor Tbx5 is important in mammalian cardiac development. ## Mutations in the human TBX5 gene cause Holt-Oram syndrome (HOS), a disorder characterized by heart and upper limb deformities. To determine the role of TBX5 in non-HOS patients