Agenesis of the Corpus Callosum with Peripheral Neuropathy
From SNPedia
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC or ACCPN), also known as Andermann Syndrome, a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy and variable degrees of dysgenesis of the corpus callosum.NIH
ACCPN is inherited as an autosomal recessive, through mutations in the SLC12A6 gene.
Several SLC12A6 mutations leading to ACCPN have been identified, including:
- rs515726215 or i5012573; risk allele (-), i.e. the deletion ("D" for 23andMe)
- rs121908428 or i5012575; R675* or R624*; risk allele T in dbSNP but A for 23andMe
