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Phenotypic evolution of UNC80 loss of function.

Elise Valkanas¹, Katherine Schaffer¹, Christopher Dunham²

¹NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, National Institutes of Health, Bethesda, Maryland.

American Journal of Medical Genetics. Part A

|August 12, 2016

Summary

Two siblings with spastic paraplegia and developmental delay exhibited failure to thrive due to novel UNC80 gene mutations. This finding expands the known spectrum of UNC80-related disorders and highlights its role in neurodevelopment and growth.

Keywords:

emaciation failure to thrive growth restriction intellectual disability seizures

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Area of Science:

Genetics
Neurology
Pediatrics

Background:

Failure to thrive is a complex condition with diverse underlying causes.
Hereditary spastic paraplegias (HSPs) are a group of inherited neurological disorders.
Atypical presentations of HSPs can include global developmental delay and failure to thrive.

Purpose of the Study:

To identify the genetic cause of spastic paraplegia, global developmental delay, and failure to thrive in two siblings.
To expand the understanding of the phenotypic spectrum associated with UNC80 gene mutations.

Main Methods:

Exome sequencing was performed to identify genetic variants.
Clinical and biochemical investigations were conducted.
Analysis of UNC80 mRNA levels in patient-derived fibroblasts was performed.

Main Results:

Biallelic mutations in the UNC80 gene (NM_032504.1:c.[3983-3_3994delinsA];[2431C>T]) were identified.
These mutations are predicted to result in loss of UNC80 function.
Absence of detectable UNC80 mRNA suggests nonsense-mediated decay.

Conclusions:

The identified UNC80 mutations are the likely cause of the observed phenotype in the siblings.
This study expands the known disease spectrum of UNC80 mutations.
UNC80 mutations should be considered in cases of unexplained spastic paraplegia with global developmental delay and failure to thrive.