Article
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Human mutation - 1 Apr 2022
Natera-de Benito Daniel, Jurgens Julie A, Yeung Alison, Zaharieva Irina T, Manzur Adnan, DiTroia Stephanie P, Di Gioia Silvio Alessandro, Pais Lynn, Pini Veronica, Barry Brenda J, Chan Wai-Man, Elder James E, Christodoulou John, Hay Eleanor, England Eleina M, Munot Pinki, Hunter David G, Feng Lucy, Ledoux Danielle, O'Donnell-Luria Anne, Phadke Rahul, Engle Elizabeth C, Sarkozy Anna, Muntoni Francesco
Abstract excerpt
A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic recessive variants in the COL25A1 gene had only been detected in a few patients with isolated ocular congenital cranial dysinnervation disorders. Here we describe five patients from...
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