A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum

Author:

Al Shibli Naema1,Al-Maawali Almundher23,Elmanzalawy Alaa4,Al-Nabhani Maryam3,Koul Roshan5,Gabr Ahlam12,Al Murshedi Fathiya23ORCID

Affiliation:

1. Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman

2. Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman

3. Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman

4. Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman

5. Department of Neurology, Institute of Liver and Biliary Sciences, Vasant Kunj, New Delhi, India

Abstract

AbstractAndermann 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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

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