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The patient was homozygous for a microdeletion in 11p14.2, which contains the BBOX1 gene (GRCh38: 11:27,040,70427,127,806) encoding for the butyrobetaine hydroxylase enzyme, as well as the Fibin (Fin Bud Initiation Factor Homolog) gene encoding for fibin, a secreted protein identified in zebrafish, mice and humans potentially acting downstream of retinoic acid and wnt signaling, essential for pectoral fin bud initiation and tbx5 expression in zebrafish [170, 171]

As NAD+ levels decline with age, obesity, and metabolic disease, sirtuin function diminishes, contributing to insulin resistance, mitochondrial dysfunction, and fat accumulation

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In certain cases, variations in the abundance of specific bacterial genera may have greater pathological significance than overall microbial diversity (20)

10.1016/j.biochi.2018.01.002 49 Flores-GuerreroJ