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Lookup NU author(s): Professor Rita HorvathORCiD, Dr Boglarka Bansagi
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© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Biallelic SBF2 mutations cause Charcot-Marie-Tooth disease type 4B2 (CMT4B2), a sensorimotor neuropathy with autosomal recessive inheritance and association with glaucoma. Since the discovery of the gene mutation, only few additional patients have been reported. We identified seven CMT4B2 families with nine different SBF2 mutations. Revisiting genetic and clinical data from our cohort and the literature, SBF2 variants were private mutations, including exon-deletion and de novo variants. The neuropathy typically started in the first decade after normal early motor development, was predominantly motor and had a rather moderate course. Electrophysiology and nerve biopsies indicated demyelination and excess myelin outfoldings constituted a characteristic feature. While neuropathy was >90% penetrant at age 10 years, glaucoma was absent in ~40% of cases but sometimes developed with age. Consequently, SBF2 mutation analysis should not be restricted to individuals with coincident neuropathy and glaucoma, and CMT4B2 patients without glaucoma should be followed for increased intraocular pressure. The presence of exon-deletion and de novo mutations demands comprehensive mutation scanning and family studies to ensure appropriate diagnostic approaches and genetic counseling.
Author(s): Lassuthova P, Vill K, Erdem-Ozdamar S, Schroder JM, Topaloglu H, Horvath R, Muller-Felber W, Bansagi B, Schlotter-Weigel B, Glaser D, Neupauerova J, Sedlackova L, Stanek D, Mazanec R, Weis J, Seeman P, Senderek J
Publication type: Article
Publication status: Published
Journal: Clinical Genetics
Year: 2018
Volume: 94
Issue: 5
Pages: 467-472
Print publication date: 01/11/2018
Online publication date: 20/07/2018
Acceptance date: 17/07/2018
ISSN (print): 0009-9163
ISSN (electronic): 1399-0004
Publisher: Wiley-Blackwell Publishing Ltd.
URL: https://doi.org/10.1111/cge.13417
DOI: 10.1111/cge.13417
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