A novel SLC9A1 mutation causes cerebellar ataxia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-07-17

AUTHORS

Kazuhiro Iwama, Hitoshi Osaka, Takahiro Ikeda, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Takeshi Mizuguchi, Naomichi Matsumoto

ABSTRACT

The mammalian Na+/H+ exchanger isoform one (NHE1), encoded by Solute Carrier Family 9, member 1 (SLC9A1), consists of 12 membrane domains and a cytosolic C-terminal domain. NHE1 plays an important role in maintaining intracellular pH homeostasis by exchanging one intracellular proton for one extracellular sodium ion. Mice with a homozygous null mutation in Slc9a1 (Nhe1) exhibited ataxia, recurrent seizures, and selective neuronal cell death. In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused Lichtenstein–Knorr syndrome characterized by cerebellar ataxia and sensorineural hearing loss, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo mutation, c.796A>C (p.Asn266His) which associated multiple anomalies. In this study, using whole exome sequencing, we identified a novel homozygous SLC9A1 truncating mutation, c.862del (p.Ile288Serfs*9), in two affected siblings. The patients showed cerebellar ataxia but neither of them showed sensorineural hearing loss nor a neuromuscular phenotype. The main clinical feature was similar to Lichtenstein–Knorr syndrome but deafness may not be an essential phenotypic feature of SLC9A1 mutation. Our report expands the knowledge of clinical features of SLC9A1 mutations. More... »

PAGES

1049-1054

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0488-x

DOI

http://dx.doi.org/10.1038/s10038-018-0488-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1105640748

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30018422


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