Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00029027.xml
J Pediatr Genet 2020; 09(04): 293-295
DOI: 10.1055/s-0039-1700975
DOI: 10.1055/s-0039-1700975
Case Report
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum
Further Information
Publication History
05 October 2019
06 December 2019
Publication Date:
06 January 2020 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00029027/202004/lookinside/thumbnails/10-1055-s-0039-1700975_1900087-1.jpg)
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.
-
References
- 1 Naiman J, Fraser FC. Agenesis of the corpus callosum; a report of two cases in siblings. AMA Arch Neurol Psychiatry 1955; 74 (02) 182-185
- 2 Ziegler E. [Malignant familial early infantile convulsive disorders, partial relation with aplasia of corpus callosum]. Helv Paediatr Acta 1958; 13 (02) 169-184
- 3 Andermann F, Andermann E, Joubert M, Karpati G, Carpenter S, Melançon D. Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia and paraparesis. Trans Am Neurol Assoc 1972; 97: 242-244
- 4 Andermann E, Andermann F, Carpenter S. , et al. Familial agenesis of the corpus callosum with spinal cord involvement: a new autosomal recessive syndrome originating in Charlevoix County. Birth Defects Orig Artic Ser 1977; XIII: 232-233
- 5 Hauser E, Bittner R, Liegl C, Bernert G, Zeitlhofer J. Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy. Neuropediatrics 1993; 24 (02) 107-110
- 6 Uyanik G, Elcioglu N, Penzien J. , et al. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology 2006; 66 (07) 1044-1048
- 7 Rudnik-Schöneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K. Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. Neuropediatrics 2009; 40 (03) 129-133
- 8 Koshy R, Ranawat A, Scaria V. al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations. J Hum Genet 2017; 62 (10) 889-894
- 9 Jian X, Boerwinkle E, Liu X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res 2014; 42 (22) 13534-13544
- 10 Richards S, Aziz N, Bale S. , et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17 (05) 405-424
- 11 De Braekeleer M, Dallaire A, Mathieu J. Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec. Hum Genet 1993; 91 (03) 223-227
- 12 Mathieu J, Bédard F, Prévost C, Langevin P. [Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases]. Can J Neurol Sci 1990; 17 (02) 103-108
- 13 Howard HC, Mount DB, Rochefort D. , et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet 2002; 32 (03) 384-392
- 14 Salin-Cantegrel A, Rivière JB, Dupré N. , et al. Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology 2007; 69 (13) 1350-1355