Spondyloepiphyseal dysplasia with large epiphyses and disturbed mitochondrial function is associated with PISD variant
A new article published in Human Mutation identified two families with a new type of spondyloepimetaphyseal dysplasia with mild facial dysmorphism, flat vertebral bodies, large epiphyses, metaphyseal dysplasia, and hallux valgus as common clinical features. The researchers found a PISD mutation by trio-exome sequencing, which encodes phosphatidylserine decarboxylase that is localised in the inner mitochondrial membrane.
Hum Mutat. 2019 Mar;40(3):299-309
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