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Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene
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Pangilinan, Faith; Watkins, David; Bernard, David; Chen, Yue; Dong, Ningzheng; Wu, Qingyu; Ozel-Abaan, Hatice; Kaur, Manjit; Caggana, Michele; Morrissey, Mark; Browne, Marilyn L.; Mills, James L.; Van Ryzin, Carol; Shchelochkov, Oleg; Sloan, Jennifer; Venditti, Charles P.; Sarafoglou, Kyriakie; Rosenblatt, David S.; Kay, Denise M.; Brody, Lawrence C.
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In: Am J Med Genet A (2022)
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Abstract:
The biological and clinical significance of the p.E88del variant in the transcobalamin receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign, pathogenic, and of uncertain significance. To determine functional consequence and clinical relevance of this allele, we employed cell culture and genetic association studies. Fibroblasts from sixteen CD320 p.E88del homozygotes exhibited reduced binding and uptake of cobalamin. Complete ascertainment of newborns with transiently elevated C3 (propionylcarnitine) in New York State demonstrated that homozygosity for CD320 p.E88del was over-represented (7/348, p<6x10(−5)). Using population data, we estimate that ~85% of the p.E88del homozygotes born in the same period did not have elevated C3, suggesting that cobalamin metabolism in the majority of these infants with this genotype is unaffected. Clinical follow-up of 4/9 homozygous individuals uncovered neuropsychological findings, mostly in speech and language development. None of these nine individuals exhibited perturbation of cobalamin metabolism beyond the newborn stage even during periods of acute illness. Newborns homozygous for this allele in the absence of other factors are at low risk of requiring clinical intervention, although more studies are required to clarify the natural history of various CD320 variants across patient populations.
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Article
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URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8923979/
http://www.ncbi.nlm.nih.gov/pubmed/35107211
https://doi.org/10.1002/ajmg.a.62627
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Spoken Language Identification Using Deep Learning
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In: Comput Intell Neurosci (2021)
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Measurement of single-diffractive dijet production in proton-proton collisions at $\sqrt{s} =$ 8 TeV with the CMS and TOTEM experiments
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In: Eur.Phys.J.C ; https://hal.archives-ouvertes.fr/hal-02507664 ; Eur.Phys.J.C, 2020, 80 (12), pp.1164. ⟨10.1140/epjc/s10052-020-08562-y⟩ (2020)
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Measurement of the top quark mass with lepton+jets final states using $\mathrm {p}$ $\mathrm {p}$ collisions at $\sqrt{s}=13\,\text {TeV} $
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In: http://infoscience.epfl.ch/record/275278 (2020)
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Measurement of prompt and nonprompt charmonium suppression in $\text {PbPb}$ collisions at 5.02 $\,\text {Te}\text {V}$
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In: Eur.Phys.J.C ; https://hal.archives-ouvertes.fr/hal-01833739 ; Eur.Phys.J.C, 2018, 78 (6), pp.509. ⟨10.1140/epjc/s10052-018-5950-6⟩ (2018)
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Measurement of prompt and nonprompt charmonium suppression in $\text {PbPb}$ collisions at 5.02 $\,\text {Te}\text {V}$
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