LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.

ABSTRACT:

Objective

Clinical, neuroimaging, and genetic characterization of 3 patients with LINS1-associated developmental regression, intellectual disability, dysmorphism, and further neurologic deficits.

Methods

Three affected brothers from a consanguineous family from Afghanistan, their 2 healthy siblings, and both parents were all assessed in the clinic. General and neurologic examination, expert dysmorphology examination, and 3T brain MRI were performed. Whole-exome sequencing was performed for the 3 affected brothers, followed by Sanger sequencing in all available family members.

Results

The index patient and his 2 affected brothers presented a complex neurologic syndrome with similar features but marked intrafamilial phenotypical variability, including varying deg

SUBMITTER: Neuhofer CM 

PROVIDER: S-EPMC7413627 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature