Literature DB >> 35028776

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

Masahiro Ando1, Yujiro Higuchi2, Mika Takeuchi2, Akihiro Hashiguchi2, Hiroshi Takashima2.   

Abstract

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Year:  2022        PMID： 35028776     DOI： 10.1007/s10072-021-05817-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  7 in total

1.  Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Authors:  Anas M Alazami; Nisha Patel; Hanan E Shamseldin; Shamsa Anazi; Mohammed S Al-Dosari; Fatema Alzahrani; Hadia Hijazi; Muneera Alshammari; Mohammed A Aldahmesh; Mustafa A Salih; Eissa Faqeih; Amal Alhashem; Fahad A Bashiri; Mohammed Al-Owain; Amal Y Kentab; Sameera Sogaty; Saeed Al Tala; Mohamad-Hani Temsah; Maha Tulbah; Rasha F Aljelaify; Saad A Alshahwan; Mohammed Zain Seidahmed; Adnan A Alhadid; Hesham Aldhalaan; Fatema AlQallaf; Wesam Kurdi; Majid Alfadhel; Zainab Babay; Mohammad Alsogheer; Namik Kaya; Zuhair N Al-Hassnan; Ghada M H Abdel-Salam; Nouriya Al-Sannaa; Fuad Al Mutairi; Heba Y El Khashab; Saeed Bohlega; Xiaofei Jia; Henry C Nguyen; Rakad Hammami; Nouran Adly; Jawahir Y Mohamed; Firdous Abdulwahab; Niema Ibrahim; Ewa A Naim; Banan Al-Younes; Brian F Meyer; Mais Hashem; Ranad Shaheen; Yong Xiong; Mohamed Abouelhoda; Abdulrahman A Aldeeri; Dorota M Monies; Fowzan S Alkuraya
Journal:  Cell Rep       Date:  2014-12-31       Impact factor: 9.423

2.  Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Authors:  Rajech Sharkia; Stavit A Shalev; Abdelnaser Zalan; Milit Marom-David; Nathan Watemberg; Jill E Urquhart; Sarah B Daly; Sanjeev S Bhaskar; Simon G Williams; William G Newman; Ronen Spiegel; Abdussalam Azem; Orly Elpeleg; Muhammad Mahajnah
Journal:  Am J Med Genet A       Date:  2017-04       Impact factor: 2.802

Review 3.  Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.

Authors:  Christine Le; Asuri N Prasad; C Anthony Rupar; Derek Debicki; Andrea Andrade; Chitra Prasad
Journal:  Can J Neurol Sci       Date:  2019-05-06       Impact factor: 2.104

4.  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.

Authors:  Preetinanda Parida; Aranya Dubbudu; Seba Ranjan Biswal; Indar Kumar Sharawat; Prateek Kumar Panda
Journal:  Brain Dev       Date:  2020-10-20       Impact factor: 1.961

5.  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.

Authors:  S Charles Bronson; E Suresh; S Stephen Abraham Suresh Kumar; C Mythili; A Shanmugam
Journal:  Cureus       Date:  2021-02-06

6.  Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Authors:  Sylvie Picker-Minh; Cyril Mignot; Diane Doummar; Mais Hashem; Eissa Faqeih; Patrice Josset; Béatrice Dubern; Fowzan S Alkuraya; Nadine Kraemer; Angela M Kaindl
Journal:  Orphanet J Rare Dis       Date:  2016-04-29       Impact factor: 4.123

7.  A novel PTRH2 missense mutation causing IMNEPD: a case report.

Authors:  Hossein Jafari Khamirani; Sina Zoghi; Mehdi Dianatpour; Aria Jankhah; Seyed Sajjad Tabei; Sanaz Mohammadi; Seyed Alireza Dastgheib
Journal:  Hum Genome Var       Date:  2021-06-10
  7 in total

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