Editing Marfan syndrome (section)

===Marfanoid–progeroid–lipodystrophy syndrome===
{{Main|Marfanoid–progeroid–lipodystrophy syndrome}}
[[Marfanoid–progeroid–lipodystrophy syndrome]] (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS in which Marfan symptoms are accompanied by features usually associated with [[neonatal progeroid syndrome]] (also referred to as Wiedemann–Rautenstrauch syndrome) in which the levels of [[white adipose tissue]] are reduced.<ref>{{cite web|url=http://www.omim.org/entry/616914|title=OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS|website=omim.org|access-date=2016-12-06|archive-date=2018-11-30|archive-url=https://web.archive.org/web/20181130122757/http://www.omim.org/entry/616914|url-status=live}}</ref> Since 2010, evidence has been accumulating that MPL is caused by mutations near the 3'-terminus of the [[FBN1 gene|''FBN1'' gene]].<ref>{{cite journal | vauthors = Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E | display-authors = 6 | title = Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene | journal = American Journal of Medical Genetics. Part A | volume = 152A | issue = 11 | pages = 2749–2755 | date = November 2010 | pmid = 20979188 | doi = 10.1002/ajmg.a.33690 | s2cid = 26408208 }}</ref><ref>{{cite journal | vauthors = Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG | display-authors = 6 | title = Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene | journal = European Journal of Medical Genetics | volume = 57 | issue = 5 | pages = 230–234 | date = April 2014 | pmid = 24613577 | doi = 10.1016/j.ejmg.2014.02.012 | url = https://biblio.ugent.be/publication/5661161/file/5661193 }}</ref> It has been shown that these people are also deficient in [[asprosin]], a gluco-regulatory protein hormone which is the C-terminal cleavage product of profibrillin. The levels of asprosin seen in these people were lower than expected for a heterozygous genotype, consistent with a [[dominant negative]] effect.<ref>{{cite journal | vauthors = Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra AR | display-authors = 6 | title = Asprosin, a Fasting-Induced Glucogenic Protein Hormone | journal = Cell | volume = 165 | issue = 3 | pages = 566–579 | date = April 2016 | pmid = 27087445 | pmc = 4852710 | doi = 10.1016/j.cell.2016.02.063 }}</ref>