2014
DOI: 10.1111/jdv.12841
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A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype

Abstract: We discovered four new XP-A patients and a novel XPA mutation resulting in two diverse patient alleles.

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Cited by 6 publications
(2 citation statements)
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“…The pathogenesis of neuronal injury in patients with XP is still unclear, and no definitive treatment is available. Most patients with XP-A follow a similar clinical course of gradual deterioration that begins in childhood and ends in being bedridden when they reach adulthood [5,7,8]. In our clinical experience, most of these severely affected patients were almost always homozygote of the founder mutation.…”
Section: Introductionmentioning
confidence: 71%
“…The pathogenesis of neuronal injury in patients with XP is still unclear, and no definitive treatment is available. Most patients with XP-A follow a similar clinical course of gradual deterioration that begins in childhood and ends in being bedridden when they reach adulthood [5,7,8]. In our clinical experience, most of these severely affected patients were almost always homozygote of the founder mutation.…”
Section: Introductionmentioning
confidence: 71%
“…In addition to skin and eye complications, neurological symptoms are presented in 20 to 30% of patients with XP [6]. These include, acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment.…”
Section: Short Communicationmentioning
confidence: 99%