Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A.
Tao F, Beecham GW, Rebelo AP et al.
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Objective: Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of 8 years. CMT1A is caused in most patients by a uniformly sized 1.5 Mb duplication event involving the gene PMP22.
183 European ancestry cases severe cases, 147 European ancestry mild cases
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