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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.

Mayumi Matsufuji¹, Hitoshi Osaka, Leo Gotoh

¹Yanagawa Institute for Developmental Disabilities, Fukuoka, Japan.

Pediatric Neurology

|October 8, 2013

Summary

A rare Proteolipid protein 1 gene (PLP1) partial deletion causes spastic paraplegia type 2. This X-linked dominant condition shows variable expressivity, impacting neurological function differently among affected family members.

Keywords:

Pelizaeus-Merzbacher disease deletion hypomyelinating leukodystrophy myelin non-homologous end joining palindrome proteolipid protein 1 spastic paraplegia type 2

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

Mutations in the Proteolipid protein 1 gene (PLP1) cause X-linked hypomyelinating leukodystrophies.
These disorders range from mild spastic paraplegia type 2 to severe Pelizaeus-Merzbacher disease.

Observation:

A family presented with three individuals exhibiting spastic paraplegia type 2.
Clinical severity varied, with phenotypes ranging from progressive spastic quadriplegia in a male to spastic diplegia in females, all without nystagmus.
All patients had demyelinating peripheral neuropathy and normal brainstem auditory-evoked potentials.

Findings:

A 33-kb deletion in the PLP1 gene was identified in all affected individuals.
Genomic analysis suggested a double-strand DNA break followed by nonhomologous end joining at the breakpoint.
X-inactivation patterns did not explain the variable expressivity observed between the female patients.

Implications:

Partial PLP1 deletion is a rare cause of spastic paraplegia type 2.
The condition demonstrates X-linked dominant inheritance with significant variable expressivity.
Understanding the molecular mechanisms of PLP1 deletions is crucial for diagnosing and managing these leukodystrophies.