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  • Title: A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
    Author: Benquey T, Fockens E, Kouton L, Delmont E, Martini N, Levy N, Attarian S, Bonello-Palot N.
    Journal: J Neuromuscul Dis; 2020; 7(4):505-510. PubMed ID: 32538861.
    Abstract:
    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder commonly presenting with acute-onset, non-painful focal sensory and motor mono neuropathy. In 80% of cases, the genetic defect is a 1.5 Mb deletion on chromosome 17p11.2, including PMP22. Only few cases of partial deletion and point mutations in PMP22 are involved in HNPP. We investigated a 62-years-old man with lower limb plexopathy first considered as Garland's syndrome. A month later, his 29 years old son also consulted for paresthesia on the peroneal nerve.Targeted sequencing of the PMP22 gene identified a c.370delT (p.Trp124Glyfs*31) in both affected patients.We report a new PMP22 point mutation associated with an atypical clinical phenotype of HNPP, a painful plexopathy of the lower limb worsenen by diabetes and a mere paresthesia, but a typical ENMG. This study illustrates the large spectrum of the disease, and emphasizes the importance of a complete ENMG and family history.
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