Targeting Heritable Childhood Blindness
Gene sequencing study identifies a gene mutation responsible for heritable cases of LCA and OMS for the first time
Mark Hillen |
Researchers who performed a whole exome gene sequencing study on seven families with inherited retinal degeneration have identified a new gene that is thought to be responsible for some cases of Leber Congenital Amaurosis (LCA) and Oliver-McFarlane Syndrome (OMS): PNPLA6 (1). The gene is the first to be associated with OMS, and codes for the enzyme neuropathy target esterase (NTE) – a phospholipase that is thought to play a role in embryonic neurite outgrowth and process elongation during neuronal differentiation.
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