Article
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Human mutation - 1 Jan 2018
Jenkins Zandra A, Macharg Alison, Chang Cheng-Yee, van Kogelenberg Margriet, Morgan Tim, Frentz Sophia, Wei Wenhua, Pilch Jacek, Hannibal Mark, Foulds Nicola, McGillivray George, Leventer Richard J, García-Miñaúr Sixto, Sugito Stuart, Nightingale Scott, Markie David M, Dudding Tracy, Kapur Raj P, Robertson Stephen P
Abstract excerpt
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo-obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is dependent on retention of residual FLNA function but it is unclear why a subgroup of males with mutations in the 5'...
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