Jul 2026· Neurology and Clinical Neuroscience· 0 citations· 11 references
TL;DR
The importance of comprehensive genome analysis including VWA1 in patients with distal neuropathies, particularly when early‐onset foot deformities are present, is highlighted, and the potential pathogenic relevance of missense variants within the second FN3 domain is highlighted.
Abstract
Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological studies showed axonal sensorimotor involvement. Whole‐genome sequencing identified two novel
VWA1
variants in compound heterozygosity: c.1244 T>C [p.(L415P)], located in the fibronectin type III (FN3) domain, and c.455delG [p.(G152Afs*54)]. This report underscores the importance of comprehensive genome analysis including
VWA1
in patients with distal neuropathies, particularly when early‐onset foot deformities are present, and highlights the potential pathogenic relevance of missense variants within the second FN3 domain.
Children presenting with progressive gait abnormality may suffer from a genetic disorder. NDUFS1-related mitochondrial complex I deficiency is a rare disorder with highly variable phenotypes. Predominant axonal neuropathy without prominent systemic metabolic dysfunction is unusual. Expanding reports of such prese...
R. Sawaya, Amani A. Bannout, Nadine J. Makhoul et al.· BMC Pediatrics· 0 citations
The findings expand the clinical and genetic spectrum of SIGMAR1-associated disease and support its classification as dHMN rather than ALS, particularly in patients with dHMN accompanied by pyramidal features.
Kento Kodama, M. Ando, Y. Higuchi et al.· Journal of Neuromuscular Dis...· 0 citations
A patient with an intermediate CMT (CMT‐Int) type carrying a novel pathogenic variant in the MPZ gene combined with type 2 diabetes developed type 2 diabetes following pancreatic cyst surgery in September 2022, and Electrophysiological findings suggested widespread peripheral nerve damage affecting both sensory and mot...
Lu Xia, Li-Yan Cai, Xin Chen et al.· Case Reports in Genetics· 0 citations
When a child presents with distal muscle weakness, neuromyotonia, and elevated CPK, ARAN-NM should be considered, and the p.Arg37Pro mutation in the HINT1 gene in a homozygous state should be considered.
I. Komarova, V. Zykov, A. S. Rubtsova et al.· PEDIATRIA Journal named afte...· 0 citations
This case underscores the clinical relevance of whole-exome sequencing in patients with overlapping syndromic features and supports a possible founder effect in this population of Mexican ancestry.
Emmanuel Rojas-Morales, Eduardo Esparza-García, T. Magaña-Torres· 0 citations
Background/Objectives: Pathogenic variants in collagen type 4 α5 chain (COL4A5), responsible for X-linked Alport syndrome, are classically associated with progressive kidney disease, sensorineural hearing impairment, and ocular abnormalities. Cerebrovascular involvement is not considered part of the COL4A5-related phen...
Hagit Toledano-Alhadef, A. Fattal-Valevski, M. Hausman-Kedem et al.· Journal of Clinical Medicine· 0 citations
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