例如:"lncRNA", "apoptosis", "WRKY"

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

Can J Neurol Sci. 2019 Jul;46(4):459-463. Epub 2019 May 06
Christine Le 1 , Asuri N Prasad 1 , C Anthony Rupar 2 , Derek Debicki 1 , Andrea Andrade 1 , Chitra Prasad 2
Christine Le 1 , Asuri N Prasad 1 , C Anthony Rupar 2 , Derek Debicki 1 , Andrea Andrade 1 , Chitra Prasad 2
+ et al

[No authors listed]

Author information
  • 1 Department of Clinical Neurological Sciences, London, Ontario,Canada.
  • 2 Department of Pediatrics, London, Ontario,Canada.

摘要


We report three brothers born to consanguineous parents of Syrian descent, with a homozygous novel c.324G>A (p.W108*) mutation in PTRH2 that encodes peptidyl-tRNA hydrolase 2, causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We describe the core clinical features of postnatal microcephaly, motor and language delay with regression, ataxia, and hearing loss. Additional features include epileptic seizures, pancreatic insufficiency, and peripheral neuropathy. Clinical phenotyping enabled a targeted approach to the investigation and identification of a novel homozygous nonsense mutation in PTRH2, c.324G>A (p.W108*). We compare our patients with those recently described and review the current literature for IMNEPD.

KEYWORDS: Ataxia, Developmental delay, Hearing loss and peripheral neuropathy, Neuroendocrinopathy, Postnatal microcephaly