Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.

Introduction/aims: Advanced genetic testing including next-generation sequencing (AGT/NGS) has facilitated DNA testing in the clinical setting and greatly expanded new gene discovery for the Charcot-Marie-Tooth neuropathies and other hereditary neuropathies (CMT/HN). Herein, we report AGT/NGS results, clinical findings, and diagnostic yield in a cohort of CMT/HN patients evaluated at our neuropathy care center.

Methods: We reviewed the medical records of all patients with suspected CMT/HN who underwent AGT/NGS at the Hospital for Special Care from January 2017 through January 2020.

Conformation of a Geminal Dicyclopropyl-Substituted Trimethylenemethane Triplet [2-(Dicyclopropylmethylidene)cyclopentane-1,3-diyl].

Triplet 2-(dicyclopropylmethylidene)cyclopentane-1,3-diyl, CP2TMM, has a Deltam(s) = 2 ESR transition revealing hyperfine splitting consistent with coupling to two equivalent alpha hydrogens and five equivalent beta hydrogens and one other hydrogen with a small hyperfine coupling constant. This is consistent only with a conformation in which one cyclopropane ring conjugates with the pi triplet so that the other cyclopropane is twisted allowing the tertiary cyclopropyl hydrogen to hyperconjugate. Geometry optimization of the triplet state of CP2TMM was carried out using the 3-21G basis set with a UHF wave function and while the singlet state was optimized using a GVB perfect pairing wave function.