Yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

ABSTRACT: Hypomyelination, a neurological condition characterized by decreased production of myelin sheets by glial cells, often has no known etiology. Elucidating the genetic causes of hypomyelination provides a better understanding of myelination, as well as means to diagnose, council, and treat patients. Here, we present evidence that YIPPEE LIKE 3 (YPEL3), a gene whose developmental role was previously unknown, is required for central and peripheral glial cell development. We identified a child with a constellation of clinical features including cerebral hypomyelination, abnormal peripheral nerve conduction, hypotonia, areflexia, and hypertrophic peripheral nerves. Exome and genome sequencing revealed a de novo mutation that creates a frameshift in the open reading frame of YPEL3, leading to an

SUBMITTER: Blanco-Sanchez B 

PROVIDER: S-EPMC7319359 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature