Open AccessA Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum
Author(s) -
Naema Al Shibli,
Almundher AlMaawali,
Alaa Elmanzalawy,
Maryam Al-Nabhani,
Roshan Koul,
Ahlam Gabr,
Fathiya Al Murshedi
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1700975
Subject(s) - agenesis of the corpus callosum , hypotonia , corpus callosum , intellectual disability , medicine , auditory neuropathy , exome sequencing , agenesis , pathology , neuroscience , anatomy , psychology , pediatrics , genetics , biology , audiology , gene , psychiatry , mutation , hearing loss
Andermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral neuropathy (ACCPN), is an autosomal recessive motor and sensory neuropathy known to be associated with ACC and mild-to-moderate intellectual disability. We present a 7-year-old girl with infantile-onset hypotonia, mild intellectual disability, and severe motor and sensory demyelinating peripheral neuropathy. Brain magnetic resonance imaging showed intact corpus callosum. Whole exome sequencing showed a novel splice-site pathogenic variant in the SLC12A6 gene. We confirm that ACC is not a mandatory feature and suggest that the term ACCPN may be misleading.