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- W2891272351 abstract "Objective: To investigate unusual genotype-phenotype relationships in peripheral neuropathies. Background: Inherited peripheral neuropathies (e.g. Charcot-Marie-Tooth/CMT) are a genetically heterogeneous group of disorders with overlapping presentations. Methods: Our clinical laboratory has performed sequencing and copy number analysis for up to 50 neuropathy genes in over 840 patients referred for diagnostic testing, including multi-gene and PMP22 single-gene tests. Results: Our results suggest that unusual genotype-phenotype relationships are more common than expected in neuropathies. Duplications of PMP22 cause CMT while deletions cause Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). We found four cases with unexpected PMP22 results (deletion versus duplication) based on the reported phenotype, representing 3.2[percnt] of positive PMP22 deletion/duplication tests (n=125). Such apparently discordant results have been occasionally reported. MFN2 pathogenic variants are a common cause of axonal CMT but rarely may also be associated with demyelinating and intermediate sub-types. We observed three patients with pathogenic MFN2 variants and demyelinating/intermediate electrophysiological studies, representing 21.4[percnt] of MFN2-positive cases (n=14) and 2.8[percnt] of positive neuropathy panel tests (n=108). The IGHMBP2 gene is known to cause autosomal recessive infantile-onset spinal muscular atrophy with respiratory distress 1. However, recent studies identified IGHMBP2 pathogenic variants in CMT families. We identified compound heterozygous IGHMBP2 pathogenic variants in three adolescent/adult patients with CMT representing 2.8[percnt] of the positive neuropathy panel tests (n=108). Conclusions: Our results support an expanded phenotypic spectrum of pathogenic variants in MFN2 and IGHMBP2 and, for PMP22-related disorders, help achieve the correct diagnosis, which is important for accurate prognosis. The rare association of multiple CMT types with MFN2 and the emerging connection between IGHMBP2 and CMT supports the use of a comprehensive, multi-gene testing strategy over smaller targeted panels. Taken together, these unexpected findings underscore the utility of genetic testing for neuropathies because the diagnosis would have been missed without the appropriate genetic test. Disclosure: Dr. Brandt has received personal compensation for activities with GeneDx as an employee. Dr. Downtain Pickersgill has received personal compensation from a commercial entity. Dr. Suchy has received personal compensation for activities with GeneDx as an employee." @default.
- W2891272351 created "2018-09-27" @default.
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- W2891272351 date "2016-04-05" @default.
- W2891272351 modified "2023-09-28" @default.
- W2891272351 title "Genotype-Phenotype Relationships in Peripheral Neuropathies: Challenging the ‘Status Quo’ (P5.019)" @default.
- W2891272351 hasPublicationYear "2016" @default.
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