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Neurological Sciences

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01-03-2022 | Intellectual Disability | Letter to the Editor

The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

Authors: Masahiro Ando, Yujiro Higuchi, Mika Takeuchi, Akihiro Hashiguchi, Hiroshi Takashima

Published in: Neurological Sciences | Issue 3/2022

Excerpt

To the Editor, …

Hu H et al (2014) Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann Clin Transl Neurol 12:1024–1035. https://doi.org/10.1002/acn3.149CrossRef

Alazami AM et al (2015) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 10:148–161. https://doi.org/10.1016/j.celrep.2014.12.015CrossRefPubMed

Picker-Minh S et al (2016) Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. Orphanet J Rare Dis 11:52. https://doi.org/10.1186/s13023-016-0433-z.SharkiaCrossRefPubMedPubMedCentral

Sharkia R et al (2017) Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. Am J Med Genet A 173:1051–1055. https://doi.org/10.1002/ajmg.a.38140CrossRefPubMed

Le C et al (2019) Infantile-onset multisystem neurologic, endocrine, and pancreatic disease: case and review. Can J Neurol Sci 46:459–463. https://doi.org/10.1017/cjn.2019.35CrossRefPubMed

Khamirani HJ et al (2021) A novel PTRH2 missense mutation causing IMNEPD: a case report. Hum Genome Var 8:23. https://doi.org/10.1038/s41439-021-00147-9CrossRefPubMedPubMedCentral

Parida P et al (2021) Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: expanding the clinical spectrum of IMNEPD. Brain Dev 43:314–319. https://doi.org/10.1016/j.braindev.2020.09.009CrossRefPubMed

Charles Bronson S et al (2021) A novel synergistic association of variants in PTRH2 and KIF1A relates to a syndrome of hereditary axonopathy, outer hair cell dysfunction, intellectual disability, pancreatic lipomatosis, diabetes, cerebellar atrophy, and vertebral artery hypoplasia. Cureus 13:e13174. https://doi.org/10.7759/cureus.13174CrossRefPubMedPubMedCentral

Title: The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan
Authors: Masahiro Ando
Yujiro Higuchi
Mika Takeuchi
Akihiro Hashiguchi
Hiroshi Takashima
Publication date: 01-03-2022
Publisher: Springer International Publishing
Keywords: Intellectual Disability
Intellectual Disability
Published in: Neurological Sciences / Issue 3/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05817-8

At a glance: The STEP trials

Springer Medicine

The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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