Pathologies oculaires par mutation du gène SOX2

Pathologies oculaires par mutation du gène SOX2
Référence MIM 206900
Chromosome 3q26.3-q27
Gène SOX2
Mutation Délétion ou mutation ponctuelle
Mutation de novo Toujours
Anticipation Non
Prévalence 1 sur 2 500 000
Liste des maladies génétiques à gène identifié


Les pathologies oculaires par mutation du gène SOX2 comprennent l'absence d'œil ou anophtalmie et/ou une microphtalmie sévère et bilatérale reconnaissable dès la naissance ou détectable lors de l'échographie anténatale. Les autres anomalies décrites sont : une atrésie de l'œsophage, des malformations cérébrales et des anomalies des organes génitaux externes chez le garçon.

Les caractéristiques cliniques de cette maladie sont :

  • Anophtalmie (absence d'un œil ou des deux yeux) ou microphtalmie bilatérale
  • Trouble de l'apprentissage
  • Croissance pondérale post natale insuffisante
  • Cryptorchidie ou micro pénis chez les garçons

C'est une pathologie très rare puisque seulement dix cas sont connus actuellement.

Sources

  • (en) David R Fitzpatrick « SOX2-Related Eye Disorders » in GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2006[1] PMID 20301477

Read other articles:

Lenguas del río RamuPaíses Papúa Nueva Guinea Papúa Nueva GuineaHablantes ~67 mil (2009)Filiación genética lenguas papúes   Bajo Sepik-Ramu     Lenguas RamuSubdivisiones Bajo RamuTamolanoAnnabergMongol–LangamArafundi [editar datos en Wikidata] Las lenguas Ramu constituyen grupo amplio de lenguas papúes, de unas treinta lenguas, posiblemente relacionadas entre sí. El nombre procede del río Ramu en cuya cuenca se hablan estas lenguas. Cla...

Chemical compound ErgocornineIdentifiers IUPAC name 12′-Hydroxy-2′,5′-α-bis(1-methyl-ethyl)ergotaman-3′,6′,18-trione CAS Number564-36-3 YPubChem CID73453ChemSpider66155 NUNII7W36B25464CompTox Dashboard (EPA)DTXSID40971841 ECHA InfoCard100.008.430 Chemical and physical dataFormulaC31H39N5O5Molar mass561.683 g·mol−13D model (JSmol)Interactive image SMILES O=C3N1CCC[C@H]1[C@]2(O)O[C@](C(=O)N2[C@H]3C(C)C)(NC(=O)[C@@H]7/C=C6/c4cccc5c4c(c[nH]5)C[C@H]6N(C)C7)C(C)C InChI ...

Bahnsteigebene Übersicht Stationsname an den Bahnsteigwänden Lageplan U-Bahnhof Hohe Marter Der U-Bahnhof Hohe Marter (Abkürzung: HM) ist der 27. U-Bahnhof der Nürnberger U-Bahn und wurde am 27. September 1986 eröffnet. Täglich wird er von rund 8.800 Fahrgästen genutzt.[1] Namensstiftend für die Hohe Marter ist eine Marterlsäule an der Schweinauer Hauptstraße, die die einstige Geleitsgrenze zwischen der Reichsstadt Nürnberg und dem Markgrafentum Ansbach markierte....

Фояно-ді-Валь-ФортореFoiano di Val Fortore Комуна Країна  ІталіяРегіон КампаніяПровінція БеневентоКод ISTAT 062031Поштові індекси 82020Телефонний код 0824Координати 41°21′00″ пн. ш. 14°59′00″ сх. д. / 41.35000° пн. ш. 14.98333° сх. д. / 41.35000; 14.98333Координати: 41°21′00″ ...

フォーミュラ・ルノーUK フォーミュラ・ルノー(Formula Renault )とは、ヨーロッパやその他の国で開催されている初級フォーミュラカーレースである。1968年にフランスにおいて開催された国内選手権(フォーミュラ・フランス)を起源とし、1971年に初開催された。以来、新人レーサーの登竜門としての役割を果たしている。ルノー・スポールもしくは各国のルノーが主催

Army Comrades Association Asociación de Camaradas del Ejército Líder Eoin O'DuffyFundación 1932Disolución 1933  [1]Ideología FascismoNacionalismo irlandésAnticomunismoSede Estado Libre IrlandésPaís Irlanda1 Integración en el Fine Gael.[editar datos en Wikidata] La Asociación de Camaradas del Ejército (en inglés: Army Comrades Association o ACA), más tarde llamada Guardia Nacional (National Guard) y más conocida como los blueshirts o Camisas Azules (en irland...

الجامعة الوطنية أكاديمية أوستروغ   معلومات التأسيس 1576 النوع وطنية، مستقلة، بحثية الموقع الجغرافي إحداثيات 50°11′41″N 26°18′17″E / 50.194596°N 26.304705°E / 50.194596; 26.304705  المدينة محافظة ريفنا، أوستروغ الرمز البريدي 35800 البلد  أوكرانيا الإدارة الرئيس إيهور ديميدوفيتش �...

هذه المقالة بحاجة لصندوق معلومات. فضلًا ساعد في تحسين هذه المقالة بإضافة صندوق معلومات مخصص إليها. يفتقر محتوى هذه المقالة إلى الاستشهاد بمصادر. فضلاً، ساهم في تطوير هذه المقالة من خلال إضافة مصادر موثوق بها. أي معلومات غير موثقة يمكن التشكيك بها وإزالتها. (ديسمبر 2018) هذه الم

Worship of the self Mha PujāSketch of Nepalese Mha Pujā MandalaObserved byNepalese Hindus and BuddhistsTypeReligiousSignificanceSpiritual purification for new yearCelebrationsMandala worship, ritual gifts presentation, feastDateKachhala New Moon Mha Pujā (Newar Script:

1945 Indian Hindi-language film KurukshetraTheatrical posterDirected byRameshwar SharmaProduced byUnity PicturesStarringK. L. SaigalRadharaniNawabShantiMusic byGanpat RaoProductioncompanyUnity PicturesRelease date1945Running time135 minCountryIndiaLanguageHindi Kurukshetra is a 1945 Indian Hindi-language film directed by Rameshwar Sharma.[1] Produced Under the banner of Unity Pictures it starred K. L. Saigal as Karna, P. V. Narasimha Bharathi as Krishna, Radharani, Nawab, Shanti, Bima...

Alexander Ratcliffe redirects here. For the German soldier, see List of Knight's Cross of the Iron Cross recipients (R). Political party in Scotland Scottish Protestant League AbbreviationSPLLeaderAlexander RatcliffeFounderAlexander RatcliffeFounded1920DissolvedEarly 1940sMerged intoScottish Democratic Fascist PartyNewspaperThe VanguardIdeologyRight-wing populismReligious conservatismFascismAnti-Irish immigrationScottish Home RuleAnti-Catholicism Antisemitism (from late 1930s)Politic...

artikel ini perlu dirapikan agar memenuhi standar Wikipedia. Masalah khususnya adalah: Too messy Silakan kembangkan artikel ini semampu Anda. Merapikan artikel dapat dilakukan dengan wikifikasi atau membagi artikel ke paragraf-paragraf. Jika sudah dirapikan, silakan hapus templat ini. (Pelajari cara dan kapan saatnya untuk menghapus pesan templat ini) Artikel atau bagian mungkin perlu ditulis ulang agar sesuai dengan standar kualitas Wikipedia. Anda dapat membantu memperbaikinya. Halaman pemb...

Kanakadhara StotraInformationReligionHinduismAuthorAdi ShankaraLanguageSanskritVerses22Statue of Adi Shankara, the composer of this hymnHindu hymn about Lakshmi The Kanakadhara Stotra (Sanskrit: कनकधारा स्तोत्रम्, romanized: Kanakadhārāstotram) is a Hindu hymn (stotram) composed in Sanskrit by the Hindu guru Adi Shankara.[1] Etymology Kanakadhārā means the stream (dhārā) of gold (kanaka), and the hymn is called by this name since legend has i...

The shoulder patch worn by the AFL's Kansas City Chiefs in the fourth AFL-NFL Championship game The Ten-Year AFL Patch is a shoulder patch adapted for use on American Football League (AFL) team uniforms. History During the entire 1969 professional football season, all NFL players wore a shoulder patch on their uniforms, reading 50 NFL, marking the 50 years which had passed since the league's initial organization. American Football League fan Ange Coniglio[1] petitioned the AFL owners ...

Private school in Detroit, Michigan, United StatesUniversity of Detroit JesuitHigh School and AcademyAddress8400 South Cambridge AvenueDetroit, Michigan 48221United StatesCoordinates42°25′58″N 83°9′18″W / 42.43278°N 83.15500°W / 42.43278; -83.15500InformationTypePrivateMottoAd Majorem Dei Gloriam(For the Greater Glory of God)Religious affiliation(s)Roman CatholicPatron saint(s)St. Ignatius LoyolaNorth American MartyrsEstablished1877; 146 years ...

Scientific Library of Danylo Halytsky Lviv National Medical UniversityНаукова бібліотека Львівського національного медичного університету ім. Данила ГалицькогоThe Scientific Library of Danylo Halytsky Lviv National Medical University49°50′27″N 24°01′30″E / 49.84096512841444°N 24.025137963654515°E / 49.84096512841444; 24.025137963654515LocationLviv Oblast, UkraineTypeScientific l...

Australian reality television show For the most recent season, see The Masked Singer (Australian season 5). The Masked SingerAlso known asThe Masked Singer AustraliaGenreReality televisionGame showBased on King of Mask Singerby Munhwa Broadcasting Corporation The Masked Singerby Fox Written byRowan McGillicuddyMichael ChamberlinBen JenkinsDirected byPeter OtsCreative directorsDavid KurtChris EdmundsAntony GinandjarAshley EvansPresented byOsher GünsbergStarringJackie ODave HughesDannii Minogu...

Prince of Ethiopian EmpireNot to be confused with Seyoum Mengesha. Le'ul RasMengesha SeyoumGovernor-General of TigrayIn office1960 – 12 October 1974Preceded bySeyum MangashaMinister of Public Works and CommunicationsIn office1958–1960Governor of SidamoIn office1955–1958Preceded bySeyum MangashaGovernor of ArsiIn office1952–1955Preceded byAsrate Medhin Kassa Personal detailsBorn (1927-12-07) 7 December 1927 (age 95)Addis Ababa, Ethiopian EmpirePolitical partyEthiopian Dem...

Goldene Schallplatte von Artur Beul (1985) Eine Goldene Schallplatte ist in der Musikindustrie ein Preis, der an Musiker, Produzenten und Komponisten für den Verkauf einer Mindestanzahl an Ton- oder Bildtonträgern in einem Land verliehen wird, wobei alle Formate wie CD, LP, DVD, Blu-ray und auch Downloads gezählt werden.[1] Zusätzlich gibt es die Auszeichnung Platin-Schallplatte für noch höhere Verkaufszahlen, in der Regel doppelt so hohe wie bei der Goldenen Schallplatte. Zur w...

Canadian freestyle skier Sean PettitPersonal informationFull nameSean Martin PettitBorn (1992-07-27) July 27, 1992 (age 31)Ottawa, Ontario, CanadaHeight5 ft 8 in (1.73 m)Weight145 lb (66 kg)Websiteseanpettit.comSportCountry CanadaSportFreeskiing, Big Mountain Sean Martin Pettit (born July 27, 1992) is a Canadian freeskier born in Ottawa, Ontario. He grew up in Chelsea, Quebec until the age of 7. He now resides in Pemberton, British Columbia.[1] Skiin...