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

BMC Medical Genetics

  ^{1    1    2    3    3    4    4} 

[1] 0000 0001 0627 4262, grid.411325.0, Department of Genetics, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain;0000 0001 0627 4262, grid.411325.0, Department of Radiology, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain;0000 0001 0627 4262, grid.411325.0, Pediatric Neurology Unit, Department of Pediatrics, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain;Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain;

关键词: FLNA;    Septo-optic dysplasia;   

DOI  :  10.1186/s12881-019-0844-5

来源: publisher

【 摘 要 】

BackgroundSepto-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 presentationTo 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 morphogenesis defects. We identified a novel hemizygous deletion, c.6355 + 4_6355 + 5delAG, in intron 38 of the FLNA gene that the patient had inherited from his mother. cDNA studies showed that this variant results in the production of 3 aberrant FLNA transcripts, the most abundant of which results in retention of intron 38 of FLNA.ConclusionsWe report for the first time a case of early-onset SOD associated with a mutation in the FLNA gene. This finding broadens the spectrum of genetic causes of this rare disorder and expands the phenotypic spectrum of the FLNA gene.

【 授权许可】

CC BY