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词条 Barber–Say syndrome
释义

  1. Signs and symptoms

  2. Causes

      Genetics  

  3. Epidemiology

  4. Other names

  5. References

  6. External links

{{Infobox medical condition (new)|name=Barber Say syndrome|image=Autosomal dominant - en.svg|caption=Barber-Say syndrome has an autosomal dominant pattern of inheritance|image_size=150|pronounce=|symptoms=|onset=Neonatal|duration=|types=|causes=|risks=|diagnosis=|differential=|prevention=|treatment=|medication=|prognosis=|frequency=|deaths=|synonyms=|field=|complications=|alt=}}Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid deformities (ectropion), and an overly broad mouth (macrostomia).[1]

Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in TWIST2.[2]

Signs and symptoms

  • Severe hypertrichosis, especially of the back
  • Skin abnormalities, including hyperlaxity and redundancy
  • Facial dysmorphism, including macrostomia
  • Eyelid deformities, including ectropion
  • Ocular telecanthus
  • Abnormal and low-set ears
  • Bulbous nasal tip with hypoplastic alae nasi
  • Low frontal hairline

Causes

Genetics

Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance.[3] Exome sequencing and expression studies have shown that BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation.[4] Because TWIST2 mediates mesenchymal stem cell differentiation[5] and prevents premature or ectopic osteoblast differentiation,[6] mutations in TWIST2 that disrupt these functions by altering DNA-binding activity could explain many of the phenotypes of BSS.[2]

Epidemiology

The prevalence of Barber Say syndrome is less than 1 in 1,000,000.[7] As of 2017, only 15 cases have been reported in the literature.[8]

Other names

  • Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

References

1. ^{{Cite web|url=https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome|title=Barber Say syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|access-date=2019-01-21}}
2. ^1 {{cite journal | vauthors = Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC | display-authors = 6 | title = Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes | journal = American Journal of Human Genetics | volume = 97 | issue = 1 | pages = 99–110 | date = July 2015 | pmid = 26119818 | pmc = 4572501 | doi = 10.1016/j.ajhg.2015.05.017 }}
3. ^{{OMIM|209885|BARBER-SAY SYNDROME; BBRSAY}}
4. ^{{UniProt Full|Q8WVJ9|TWIST2 - Twist-related protein 2 - Homo sapiens (Human) - TWIST2 gene & protein }}
5. ^{{cite journal | vauthors = Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S | title = TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment | journal = Stem Cells | volume = 27 | issue = 10 | pages = 2457–68 | date = October 2009 | pmid = 19609939 | doi = 10.1002/stem.181 }}
6. ^{{cite journal | vauthors = Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA | title = Human Dermo-1 has attributes similar to twist in early bone development | journal = Bone | volume = 27 | issue = 5 | pages = 591–602 | date = November 2000 | pmid = 11062344 | doi = 10.1016/S8756-3282(00)00380-X }}
7. ^{{Cite web|url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1231|title=Orphanet: Barber Say syndrome |date=January 2014|website=www.orpha.net|language=en|archive-url=|archive-date=|dead-url=|access-date=2019-01-21}}
8. ^{{cite journal | vauthors = Yohannan MD, Hilgeman J, Allsbrook K | title = TWIST2 gene mutation | journal = Clinical Case Reports | volume = 5 | issue = 7 | pages = 1167–1169 | date = July 2017 | pmid = 28680619 | pmc = 5494409 | doi = 10.1002/ccr3.1014 }}

External links

{{Medical resources|DiseasesDB=33294|ICD10=Q87.0|ICD9=|ICDO=|OMIM=209885|MedlinePlus=|eMedicineSubj=|eMedicineTopic=|MeshID=C537908|Orphanet=1231}}{{Multiple abnormalities}}

2 : Autosomal dominant disorders|Rare genetic syndromes
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