Share to: share facebook share twitter share wa share telegram print page

Barber–Say syndrome

Barber Say syndrome
Other namesHypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Barber-Say syndrome has an autosomal dominant pattern of inheritance
Usual onsetNeonatal

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
  • Abnormal and low-set ears
  • Bulbous nasal tip with hypoplastic alae nasi
  • Low frontal hairline

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]

Diagnosis

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]

References

  1. ^ "Barber Say syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-01-21.
  2. ^ a b Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, et al. (July 2015). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". American Journal of Human Genetics. 97 (1): 99–110. doi:10.1016/j.ajhg.2015.05.017. PMC 4572501. PMID 26119818.
  3. ^ Online Mendelian Inheritance in Man (OMIM): BARBER-SAY SYNDROME; BBRSAY - 209885
  4. ^ Universal protein resource accession number Q8WVJ9 for "TWIST2 – Twist-related protein 2 – Homo sapiens (Human) – TWIST2 gene & protein " at UniProt.
  5. ^ Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S (October 2009). "TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment". Stem Cells. 27 (10): 2457–68. doi:10.1002/stem.181. PMID 19609939. S2CID 5353857.
  6. ^ Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA (November 2000). "Human Dermo-1 has attributes similar to twist in early bone development". Bone. 27 (5): 591–602. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344.
  7. ^ "Orphanet: Barber Say syndrome". www.orpha.net. January 2014. Retrieved 2019-01-21.
  8. ^ Yohannan MD, Hilgeman J, Allsbrook K (July 2017). "TWIST2 gene mutation". Clinical Case Reports. 5 (7): 1167–1169. doi:10.1002/ccr3.1014. PMC 5494409. PMID 28680619.

Read other articles:

Saint-Jean-sur-Veyle

Saint-Jean-sur-Veyle Entidad subnacional Escudo Saint-Jean-sur-VeyleLocalización de Saint-Jean-sur-Veyle en FranciaCoordenadas 46°15′29″N 4°54′56″E / 46.258055555556, 4.9155555555556Entidad Comuna de Francia • País Francia • Región Auvernia-Ródano-Alpes • Departamento Ain • Distrito Bourg-en-Bresse • Cantón Vonnas • Mancomunidad VeyleAlcaldesa Agnès Renoud-Lyat(2020-2026)Superficie   • Total 11,21 km² ...

 

Saketi, Pandeglang

SaketiKecamatanNegara IndonesiaProvinsiBantenKabupatenPandeglangPopulasi • Total45,341 jiwa (2.017)[1] jiwaKode Kemendagri36.01.14 Kode BPS3601100 Luas54,13 km²[2]Desa/kelurahan14[3] Saketi adalah nama salah satu kecamatan di Kabupaten Pandeglang, Provinsi Banten, Indonesia. Geografi Pabrik garam di Saketi Rumah yang dulu merupakan Stasiun Saketi Perbatasan Utara Kecamatan Mandalawangi, Pulosari dan Cipeucang Timur Kecamatan Cipeucang dan Bojong Selat...

 

Миколаївська область

Ця стаття містить перелік посилань, але походження тверджень у ній залишається незрозумілим через практично повну відсутність внутрішньотекстових джерел-виносок. Будь ласка, допоможіть поліпшити цю статтю, перетворивши джерела з переліку посилань на джерела-виноски у...

Live at Shelly's Manne-Hole

1966 live album by Les McCann Ltd.Live at Shelly's Manne-HoleLive album by Les McCann Ltd.Released1966RecordedDecember 31, 1965 Shelly's Manne-Hole, Hollywood, CAGenreJazzLength39:55LabelLimelightLM 82036ProducerJack TracyLes McCann chronology Beaux J. Pooboo(1965) Live at Shelly's Manne-Hole(1966) Les McCann Plays the Hits(1966) Live at Shelly's Manne-Hole is an album by pianist Les McCann recorded on New Year's Eve 1965 at Shelly's Manne-Hole and released on the Limelight label.[...

 

Friends (Erina Mano album)

This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Friends Erina Mano album – news · newspapers · books · scholar · JSTOR (June 2013) (Learn how and when to remove this template message) 2009 studio album by Erina ManoFriendsStudio album by Erina ManoReleasedDecember 16, 2009Recorded2008–2009Genre J-pop electr...

 

Golf Cup of Nations 1986

Golf Cup of Nations 1986 Toernooi-informatie Gastland  Bahrein Datum 19 maart 1986 – 14 april 1986 Teams 7 (van 1 confederatie) Stadions 1 (in 1 gaststad) Winnaar  Koeweit (6e titel) Toernooistatistieken Wedstrijden 21 Doelpunten 53  (2,52 per wedstrijd) Portaal    Voetbal De Golf Cup of Nations 1986 was de 8e editie van dit voetbaltoernooi dat werd gehouden in Bahrein van 19 maart 1986 tot en met 4 april 1986. Geplaatste teams  Bahrein (Gastland) ...

田代佳奈美

田代佳奈美個人資料全名田代佳奈美暱稱Jin（ジン）国家或地区 日本出生 (1991-03-25) 1991年3月25日（32歲） 日本滋賀縣栗東市身高1.73米（5英尺8英寸）體重70公斤（154英磅）扣球高度283厘米排球資料位置二傳目前俱樂部東麗箭11國家隊  日本 榮譽 世界U23女子排球錦標賽 2013年提華納/墨西卡利 團體 亞洲青少年排球錦標賽 2007年甘烹碧 團體 日語寫法日語原文田代 佳奈美

 

Elecciones provinciales del Neuquén de 1987

Véase también: Elecciones provinciales de Argentina de 1987 ← 1983 •  • 1991 → Elecciones provinciales de 1987Gobernador para el período 1987-199125 escaños de la Legislatura Provincial Fecha 6 de septiembre de 1987 Tipo Gubernatorial y legislativa Período 10 de diciembre de 1987 - 10 de diciembre de 1991 Demografía electoral Hab. registrados 161,192 Votantes 140,194 Participación    86.97 %  0.4 % Votos válidos 135,...

 

Muckle Flugga

Small Shetland island This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Muckle Flugga – news · newspapers · books · scholar · JSTOR (September 2014) (Learn how and when to remove this template message) Muckle Flugga Lighthouse Muckle Flugga Muckle Flugga (/ˈmʌkəl ˈflʌɡə/) is a small rocky island north o...

Religulous

ReligulousPoster rilis teatrikalSutradara Larry Charles Produser Bill Maher Jonah Smith Palmer West Ditulis oleh Bill Maher PemeranBill MaherSinematograferAnthony HardwickPenyuntingJeff GrothChristian KinnardJeffrey M. WernerPerusahaanproduksiThousand WordsDistributorLionsgateTanggal rilis 6 September 2008 (2008-09-06) (TIFF) 1 Oktober 2008 (2008-10-01) (secara terbatas) Durasi101 menitNegara Amerika Serikat Bahasa Inggris Anggaran$2,500,000[1]Pendapatankotor$13,136,...

 

George Sanders

George SandersFoto Sanders oleh Allan Warren (1972)LahirGeorge Henry Sanders(1906-07-03)3 Juli 1906Sankt-Peterburg, Kekaisaran RusiaMeninggal25 April 1972(1972-04-25) (umur 65)Castelldefels, Barcelona, Catalunya, SpanyolSebab meninggalOverdosis obat bius tidurPendidikanBedales School, Brighton CollegeAlmamaterManchester Technical CollegePekerjaanAktor, penulis, penyanyi-penulis lagu, komposer musikTahun aktif1936–1972Suami/istriSusan Larson ​(m. 1940⁠...

 

Seinfeld

American television sitcom (1989–1998) This article is about the American television sitcom. For other uses, see Seinfeld (disambiguation). SeinfeldGenreSitcomCreated byLarry DavidJerry SeinfeldDirected byArt WolffTom CheronesAndy AckermanDavid SteinbergDavid Owen TrainorJason AlexanderStarringJerry SeinfeldJulia Louis-DreyfusMichael RichardsJason AlexanderTheme music composerJonathan WolffCountry of originUnited StatesOriginal languageEnglishNo. of seasons9No. of episodes180 (list of episo...

Jayon Brown

American football player (born 1995) American football player Jayon BrownBrown with the Titans in 2021Personal informationBorn: (1995-02-26) February 26, 1995 (age 28)Long Beach, California, U.S.Height:6 ft 0 in (1.83 m)Weight:226 lb (103 kg)Career informationHigh school:Long Beach PolytechnicCollege:UCLA (2013–2016)Position:Inside linebackerNFL Draft:2017 / Round: 5 / Pick: 155Career history Tennessee Titans (2017–2021) Las Vegas Raiders ...

 

كريستيان هيلستروم

هذه المقالة يتيمة إذ تصل إليها مقالات أخرى قليلة جدًا. فضلًا، ساعد بإضافة وصلة إليها في مقالات متعلقة بها. (أبريل 2019) كريستيان هيلستروم   معلومات شخصية الميلاد 24 يوليو 1880  الوفاة 14 يونيو 1946 (65 سنة)   مكان الدفن مقبرة الشمال  [لغات أخرى]‏[1][2]  مواطنة ال�...

 

Progressive Metal

Progressive Metal Entstehungsphase: Mitte der 1980er Herkunftsort: USA Stilistische Vorläufer Progressive Rock, Jazz Fusion, Elemente aus allen Stilrichtungen des Metal Pioniere Fates Warning – Queensrÿche – Dream Theater – Watchtower – Mekong Delta – King’s X Genretypische Instrumente E-Gitarre – E-Bass – Schlagzeug – Keyboard Progressive Metal (manchmal auch Prog Metal oder Technical Metal genannt) ist eine stilistische Synthese aus den Musikrichtungen Heavy Metal, Progr...

Knightsbridge

District in central London, England For other places with the same name, see Knightsbridge (disambiguation). Human settlement in EnglandKnightsbridgeHarrods on Brompton RoadKnightsbridgeLocation within Greater LondonPopulation9,270 (2011 Census. Knightsbridge and Belgravia Ward)[1]OS grid referenceTQ275797London boroughWestminsterKensington & ChelseaCeremonial countyGreater LondonRegionLondonCountryEnglandSovereign stateUnited KingdomPost townLONDONPo...

 

Pulau Boneka

Artikel ini sebatang kara, artinya tidak ada artikel lain yang memiliki pranala balik ke halaman ini.Bantulah menambah pranala ke artikel ini dari artikel yang berhubungan atau coba peralatan pencari pranala.Tag ini diberikan pada Januari 2023. Boneka yang rusak di La Isla de las Muñecas, Mexico City. Pulau Boneka, (La Isla de las Muñecas), terletak di kanal Xochimilco, di selatan pusat Mexico City, sangat dekat dengan stadion sepak bola Estadio Azteca. Ia adalah chinampa Laguna de Teshuilo...

 

Historia militar de la Argentina

Combate de San Lorenzo, 3 de febrero de 1813. La historia militar de la Argentina comprende los conflictos armados ocurridos en el territorio que actualmente pertenece a este país sudamericano, los ejércitos y su relación con el resto de la vida argentina. Surgimiento del Estado nación argentino Invasiones Inglesas Artículo principal: Invasiones Inglesas Tras las Invasiones Inglesas, las milicias porteñas incrementaron su tamaño considerablemente alcanzando los 8000 hombres.[1]...

RU TV Moldova

This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages) This article may require cleanup to meet Wikipedia's quality standards. The specific problem is: General cleanup, formatting, source layout. Please help improve this article if you can. (August 2017) (Learn how and when to remove this template message)This article includes a list of references, related reading, or external links, but its sou...

 

Haji pottery

Japanese pottery Large Haji pottery jar Haji plate, Kōriyama site, Sendai, Miyagi Haji pottery (土師器, Hajiki) is a type of plain, unglazed, reddish-brown Japanese pottery or earthenware that was produced during the Kofun, Nara, and Heian periods of Japanese history. It was used for both ritual and utilitarian purposes, and many examples have been found in Japanese tombs, where they form part of the basis of dating archaeological sites.[1] History Haji ware evolved in the 4th cen...

 
Kembali kehalaman sebelumnya