Heterozygous variants in DCC : Beyond congenital mirror movements

Neurology. Genetics
Sebastian ThamsMartin Paucar

Abstract

To perform a comprehensive characterization of a cohort of patients with congenital mirror movements (CMMs) in Sweden. Clinical examination with the Woods and Teuber scale for mirror movements (MMs), neuroimaging, navigated transcranial magnetic stimulation (nTMS), and massive parallel sequencing (MPS) were applied. The cohort is ethnically diverse and includes a total of 7 patients distributed in 2 families and 2 sporadic cases. The degree of MMs was variable in this cohort. MPS revealed 2 novel heterozygous frameshift variants in DCC netrin 1 receptor (DCC). Two siblings harboring the pathogenic variant in c.1466_1476del display a complex syndrome featuring MMs and in 1 case receptive-expressive language disorder, chorea, epilepsy, and agenesis of the corpus callosum. The second DCC variant, c.1729delG, was associated with a typical benign CMM phenotype. No variants in DCC, NTN1, RAD51, or DNAL4 were found for the 2 sporadic CMM cases. However, one of these sporadic cases had concomitant high-risk myelodysplastic syndrome and a homozygous variant in ERCC excision repair like 2 (ERCC6L2). Reorganized corticospinal projection patterns to upper extremities were demonstrated with nTMS. The presence of chorea expands the clinical ...Continue Reading

References

Nov 1, 1978·Neurology·B T Woods, H L Teuber
May 1, 2010·Science·Myriam SrourGuy A Rouleau
Feb 11, 2014·American Journal of Human Genetics·Hemanth TummalaInderjeet Dokal
Mar 31, 2015·Journal of the Neurological Sciences·Elizabeth A FranzDavid Markie
Mar 3, 2017·Nature Genetics·Ashley P L MarshChristel Depienne
Mar 3, 2017·Nature Genetics·Saumya S JamuarTimothy W Yu
Sep 26, 2017·The Journal of Clinical Investigation·Aurélie MéneretDavid Markie
Jan 26, 2018·European Journal of Medical Genetics·Tatjana BierhalsKerstin Kutsche
Feb 2, 2018·Cell Reports·Ronan V da SilvaArtur Kania
Mar 26, 2019·American Journal of Medical Genetics. Part a·Satoshi TakenakaAkira Oka

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