DISCOVERIES REPORTS (ISSN 2393249X), 2022, volume 5
ORIGINAL ARTICLE - Case Report
CITATION: Alanazy FS, Alrashedan BS, Alotaibi M, Aldossari AM. NGF Mutation Associated with Hereditary Sensory and Autonomic Type V and Orthopedic Aspects. Discoveries Reports 2022; 5(1): e28. DOI: 10.15190/drep.2022.2
NGF Mutation Associated with Hereditary Sensory and Autonomic Type V and Orthopedic Aspects
Faisal S. Alanazy1, *, Bander S. Alrashedan1, Maha Alotaibi2, Ali M. Aldossari1
(1) Department of Orthopaedic Surgery, King Saud Medical City, Riyadh, Saudi Arabia
(2) Department of Genetic, King Saud Medical City, Riyadh, Saudi Arabia
* Corresponding author: Faisal S. Alanazy, Department of Orthopaedic Surgery, King Saud Medical City, Riyadh, Saudi Arabia. Phone: +966114356666 E-mail: firstname.lastname@example.org
Hereditary sensory and autonomic neuropathy type V is a very rare autosomal recessive disorder, manifested by the loss of temperature and pain sensation. This condition can cause painless fractures, bone necrosis, osteochondritis, and neuropathic joint destruction, subsequent to repet-itive trauma. We report the case of a 7-year-old girl with ankle arthropathy that began 6 months after a minor trauma. The clinical condition was initially thought to be infectious or oncologic in nature. We later determined that the pathology was associated with the nerve growth factor gene mutation and proposed the pathogenicity of variant c.361C>T p.(Arg121Trp) based on clinical findings and genetic testing for the patient and her parents.
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