A novel mutation in a family with complicated X linked spastic paraplegia

Abstract

Proteolipid protein 1 (PLP1) related disorders of central nervous system myelin formation; span a continuum to include a range of phenotypes from Pelizaeus-Merzbacher disease to X linked spastic paraplegia 2. Spastic paraplegia 2 is allelic to Pelizaeus-Merzbacher disease and typically caused by missense mutations in the second extracellular domain of PLP1. We report a family with two brothers, age 4 and 2 years respectively with developmental delay, speech problems and spastic quadriplegia. Their mother had mild symptoms since the age of 3 years with a diagnosis of ‘spastic diplegia’. Molecular genetics confirmed that the family had a premature stop codon at tyrosine 104 (p Tyr104X) a novel mutation in exon 3 of PLP1 gene. This mutation resulted in a truncated PLP1 protein. To the best of our knowledge, this is a novel mutation and has not been described before.

Keywords

PLP1 related disorders - X linked spastic paraparesis - Pelizaeus-Merzbacher disease