Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.

ABSTRACT:

Background

Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum pellucidum and corpus callosum dysgenesis. The variable presentation of SOD includes visual, neurologic, and/or hypothalamic-pituitary endocrine defects. The unclear aetiology of a large proportion of SOD cases underscores the importance of identifying novel SOD-associated genes.

Case presentation

To identify the disease-causing gene in a male infant with neonatal hypoglycaemia, dysmorphic features, and hypoplasia of the optic nerve and corpus callosum, we designed a targeted next-generation sequencing panel for brain morphoge

SUBMITTER: Fernandez-Marmiesse A 

PROVIDER: S-EPMC6591933 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature