rs10910527 - SIPA1L2

Magnitude 4.5 · 1 study on file

Reported associations

• Variation in SIPA1L2 Is Correlated with Phenotype Modification in Charcot- Marie- Tooth Disease Type 1A - Unknown journal (n.d.) · Unknown authors · PubMed 30706531

  ABSTRACT: 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. Methods: We genotyped DNA samples from 971 CMT1A patients on Illumina BeadChips. Genome-wide analysis was performed in a subset of 330 of these patients, who expressed the extremes of a hallmark symptom: mild and severe foot dorsiflexion strength impairment. SIPA1L2 (signal-induced proliferation-associated 1 like 2), the top identified ca

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