Abstract
On whole-exome sequencing, a novel compound heterozygous mutation (c.2923A>G/c.3523_3524insTGTCCG, p.T975A/p.1175_1176insVS) and a novel homozygous one (c.3534G>C, p.W1178C) in the PNPLA6 gene were identified in sporadic and familial Japanese patients with Boucher-Neuhäuser syndrome (BNS), respectively. However, we did not find any mutations in the PNPLA6 gene in 88 patients with autosomal recessive hereditary spastic paraplegia (ARHSP). Our study confirmed the earlier report that a PNPLA6 mutation causes BNS. This is the first report on PNPLA6 mutations in non-Caucasian patients. Meanwhile, PNPLA6 mutations might be extremely rare in Japanese ARHSP patients. Moreover, we first found hypersegmented neutrophils in two BNS patients with PNPLA6 mutations.
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Acknowledgements
We thank the Japan Spastic Paraplegia Research Consortium (JASPAC) for sending us the DNA from patients with autosomal recessive spastic paraplegia. This work was supported by Grants-in-Aid from the Research Committee for Ataxic Disease, the Ministry of Health, Labour and Welfare of Japan.
Accession Numbers
The nucleotide sequence data reported are available in the GenBank database under the accession numbers: KJ885304, KJ885305, KJ885306, KJ885307, KJ885308, KJ885309, KJ885310.
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Koh, K., Kobayashi, F., Miwa, M. et al. Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome. J Hum Genet 60, 217–220 (2015). https://doi.org/10.1038/jhg.2015.3
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DOI: https://doi.org/10.1038/jhg.2015.3
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