J Pediatr Genet 2020; 09(04): 293-295
DOI: 10.1055/s-0039-1700975
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Naema Al Shibli
1  Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
,
Almundher Al-Maawali
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
,
Alaa Elmanzalawy
4  Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman
,
Maryam Al-Nabhani
3  Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman
,
Roshan Koul
5  Department of Neurology, Institute of Liver and Biliary Sciences, Vasant Kunj, New Delhi, India
,
Ahlam Gabr
1  Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
2  Genetic and Developmental Medicine Clinic, 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
› Author Affiliations
Further Information

Publication History

05 October 2019

06 December 2019

Publication Date:
06 January 2020 (online)

Abstract

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.