TY - JOUR
T1 - A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum
AU - Al Shibli, Naema
AU - Al-Maawali, Almundher
AU - Elmanzalawy, Alaa
AU - Al-Nabhani, Maryam
AU - Koul, Roshan
AU - Gabr, Ahlam
AU - Al Murshedi, Fathiya
N1 - © Thieme Medical Publishers.
PY - 2020/12
Y1 - 2020/12
N2 - 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.
AB - 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.
U2 - 10.1055/s-0039-1700975
DO - 10.1055/s-0039-1700975
M3 - Article
C2 - 32765936
SN - 2146-4596
VL - 9
SP - 293
EP - 295
JO - Journal of Pediatric Genetics
JF - Journal of Pediatric Genetics
IS - 4
ER -