Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review

Abstract

Terminal osseous dysplasia with pigmentary defects (TODPD) is an extremely rare X‐linked dominant syndrome characterized by pigmentary skin defects, cutaneous digital fibromas and skeletal anomalies. Recent studies have identified that TODPD is caused by a unique variant, c.5217G>A (p.Val1724_Thr1739del), in the FLNA gene, which could in turn lead to the elastic fiber abnormality in TODPD. We herein present a rare case of TODPD in a Chinese girl due to an FLNA c.5217G>A heterozygous mutation, but the skin lesion biopsy showed that the elastic fibers were within normal limits in the dermis. A published work review of TODPD with the FLNA mutation from various origins is also included in this paper. To the best of our knowledge, this is the first report on TODPD with the FLNA mutation in China.

Bacille Calmette-Guérin vaccine reprograms human neonatal lipid metabolism in vivo and in vitro

“…Vaccine interactions are increasingly recognized in systems vaccinology, and a growing body of literature suggests that the nature of the vaccine stimulus (live attenuated versus killed or inactivated), as well as the order in which vaccines are administered, matters for their net off-target effects ( Blok et al, 2020 ; Clipet-Jensen et al, 2021 ; Li et al, 2020 ; Thysen et al, 2019 ). In our cohort, early BCG was given together with OPV, another live attenuated vaccine given at birth in developing countries, shown to confer mortality benefits from infectious causes ( Andersen et al, 2018 ; Lund et al, 2015 ).…”

Bacille Calmette-Guérin vaccine reprograms human neonatal lipid metabolismin vitroandin vivo

“…Vaccine interactions are increasingly recognized in systems vaccinology, and a growing body of literature suggests that the nature of the vaccine stimulus (live attenuated vs. killed or inactivated), as well as the order in which vaccines are administered, matters for their net offtarget effects (Blok et al, 2020;Clipet-Jensen et al, 2021;Higgins et al, 2016;Li et al, 2020;Sorup et al, 2016;Thysen et al, 2019;Welaga et al, 2017). In our cohort, early BCG was given together with OPV, another live attenuated vaccine given at birth in developing countries, shown to confer mortality benefits from infectious causes (Andersen et al, 2018;Lund et al, 2015).…”

A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome

“…When SON was knocked down in HeLa and human embryonic stem cells, a group of genes essential to neuronal cell migration, embryonic survival, metabolism, and mitochondrial function, including TUBG1 , FLNA , PNKP , WDR62 , PSMD3 , HDAC6 , PCK2 , PFKL , IDH2 , ACY1 , and ADA showed significantly decreased expression (Ahn et al, 2011; Kim, Baddoo, et al, 2016; Kim, Shinde, et al 2016; Lu et al, 2013). These genes play essential roles in many aspects of human growth and development (Alejandro et al, 2018; Li, Xie, Xiao, & Wang, 2020; Mona, Masoumeh, Saeed, Mehran, & Mohammad, 2019; Poirier et al, 2013). Thus, variants in SON result in severe and extensive multi‐systematic detriments.…”