A novel SLC9A1 mutation causes cerebellar ataxia

Journal of Human Genetics
Kazuhiro IwamaNaomichi 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 simila...Continue Reading

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Citations

Jun 11, 2019·Internal Medicine·Genpei YamauraFumiaki Tanaka
Sep 12, 2019·Physiological Reviews·S F Pedersen, L Counillon
Mar 8, 2019·Journal of Medical Genetics·Kazuhiro IwamaNaomichi Matsumoto
Jan 9, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Shuo LiangCarola Hunte
Feb 2, 2020·Journal of Human Genetics·Sachiko OhoriNaomichi Matsumoto
Mar 20, 2020·Molecular and Clinical Oncology·Yuka YotsumotoTomoko Hashimoto-Tamaoki
Oct 6, 2020·Human Genome Variation·Hiromi AoiNaomichi Matsumoto
Dec 13, 2018·Cerebral Cortex·Hartmut T BockerChristian A Hübner
Sep 24, 2019·Journal of Biomolecular Structure & Dynamics·Noor A ShaikBabajan Banaganapalli
Feb 16, 2019·Journal of Human Genetics·Hiromi AoiNaomichi Matsumoto
Oct 11, 2020·Journal of Human Genetics·Noriko MiyakeAhmad Reza Salehi Chaleshtori
Nov 26, 2020·Brain & Development·Atsushi MoritaHidetoshi Takada
Jan 10, 2021·Human Genome Variation·Hiromi AoiNaomichi Matsumoto
Jun 11, 2021·Nature Communications·Yanli DongYan Zhao

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Methods Mentioned

BETA
PCR
exome sequencing

Software Mentioned

GATK UnifiedGenotyper
Rotor
Gene 6000 Series
CASAVA

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