{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although none of the studies have yet delineated an independent, well‐characterized role for FAM47B in human physiology, its context within a contiguous deletion syndrome provides an important hint. In one report, high‐resolution SNP array analysis of a patient with severe Duchenne muscular dystrophy (DMD) identified a 5.8‐megabase deletion in the Xp21.2–p21.1 region that encompassed several genes – including DMD, FAM47A, TMEM47, and FAM47B, among others (7). The clinical phenotype of this contiguous gene deletion syndrome is primarily attributable to the loss of DMD; however, the deletion of neighboring genes such as FAM47B raises the possibility that loss of FAM47B might contribute to or modify the overall phenotype. In this setting, FAM47B may represent a gene whose normal function is required for aspects of cellular or tissue homeostasis that, when disrupted alongside other X‐linked genes, adds to the complexity of the clinical presentation. As a result, while the precise biological role of FAM47B remains to be defined by further functional investigations, its inclusion in the deleted genomic interval highlights the need to elucidate its potential contributions within the framework of contiguous gene syndromes.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Comprehensive studies employing large‐scale resequencing and detailed genomic profiling have underscored the power of these approaches in uncovering rare gene variants and multi‐gene deletions in X‐linked disorders"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ", further emphasizing the complexity of genetic landscapes in human disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Patrick S Tarpey, Raffaella Smith, Erin Pleasance, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.367"}], "href": "https://doi.org/10.1038/ng.367"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19377476"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19377476"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tom Skaria, Julia Burgener, Esther Bachli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "IL-4 Causes Hyperpermeability of Vascular Endothelial Cells through Wnt5A Signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0156002"}], "href": "https://doi.org/10.1371/journal.pone.0156002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27214384"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27214384"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Res (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jbmr.2590"}], "href": "https://doi.org/10.1002/jbmr.2590"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26178921"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26178921"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Peter B Kang, Hart G W Lidov, Alexander J White, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Muscle Nerve (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mus.21702"}], "href": "https://doi.org/10.1002/mus.21702"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20513101"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20513101"}]}]}]}