It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
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| http://dx.doi.org/10.1002/ccr3.4171 | DOI Listing |
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Novel gene variant identified in congenital hypomyelinating neuropathy-3: A case report.
SAGE Open Med Case Rep
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University of California, San Diego, La Jolla, CA, USA.
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J Hum Genet
October 2024
Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.
Hypomyelinating leukodystrophy-5 (HLD5) is a rare autosomal recessive hypomyelination disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the HYCC1 gene. Here we report a 23-year-old girl with HLD5 from unrelated families. Molecular analysis was performed using sequence screening of the HYCC1 gene.
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Mol Genet Genomic Med
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INSERM UMR1141, Hôpital Robert Debré, Université Paris Cité, Paris, France.
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Sci Adv
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Department of Chemical and Biological Engineering, University at Buffalo, The State University of New York (SUNY), Buffalo, NY, USA.
Cell therapy for the treatment of demyelinating diseases such as multiple sclerosis is hampered by poor survival of donor oligodendrocyte cell preparations, resulting in limited therapeutic outcomes. Excessive cell death leads to the release of intracellular alloantigens, which likely exacerbate local inflammation and may predispose the graft to eventual rejection. Here, we engineered innovative cell-instructive shear-thinning hydrogels (STHs) with tunable viscoelasticity and bioactivity for minimally invasive delivery of primary human oligodendrocyte progenitor cells (hOPCs) to the brain of a mouse, a model of congenital hypomyelinating disease.
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