Novel X-linked inheritance patterns are identified in holoprosencephaly

Takeaway

  • The cohesin complex is an important regulator of median forebrain development and X-linked inheritance patterns in holoprosencephaly (HPE).

Why this matters

  • These findings highlight previously unrecognized genes in the cohesin complex as important components of early forebrain division and the holoprosencephaly spectrum. The X-linked and cohesin complex HPE has wide implications for future genetic testing, genetic counselling and HPE research.