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| Lipodystrophy - childhood onset v2.8 | VIM |
Eleanor Williams gene: VIM was added gene: VIM was added to Lipodystrophy - childhood onset. Sources: Literature Mode of inheritance for gene: VIM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VIM were set to 32066935 Phenotypes for gene: VIM were set to lipodystrophy HP:0009125 Review for gene: VIM was set to RED Added comment: Previously variants in this gene have been associated with cataracts (PMID: 26694549, 19126778). Cogne et al 2020 (PMID: 32066935) - report a de novo heterozygous variant in VIM (c.1160âTâ>âC; p.(Leu387Pro)) causing a syndromic disorder affecting craniofacial development, peripheral nervous system, and adipose and ectodermal tissues in a 39 year old male. The variant was identified by WES. Both parents lacked the variant. Expression of human vimentin p.(Leu387Pro) in zebrafish resulted in a phenotype of perturbed body fat distribution, and craniofacial and peripheral nervous system development. Functional studies using patient-derived and transfected cells showed that the variant affects vimentin turnover and its ability to form filaments in the absence of wild-type vimentin. Sources: Literature |
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