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{{Infokutija bolest
{{Infokutija bolest
| ime = Sindrom Bosch-Boonstra-Schaafove očne atrofije<br>(BBSOAS <ref>{{cite web |title=OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS |url=https://omim.org/entry/615722 |website=omim.org |accessdate=19 January 2020}}</ref>)
| ime = Sindrom Bosch-Boonstra-Schaafove očne atrofije<br>(BBSOAS <ref>{{cite web |title=OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS |url=https://omim.org/entry/615722 |website=omim.org |access-date=19. 1. 2020}}</ref>)
| slika = Autosomal dominant - en.svg
| slika = Autosomal dominant - en.svg
| opis_slike = Ovo stanje [[nasljeđivanje|nasljeđuje]] se autosomno dominantnim putem
| opis_slike = Ovo stanje [[nasljeđivanje|nasljeđuje]] se autosomno dominantnim putem
Red 25: Red 25:
}}
}}


'''Bosch-Boonstra-Schaafov sindrom optičke atrofije''' jest rijetko [[autosom]]no nasljedno stanje koje karakterizira [[zaostajanje u razvoju]], [[intelektualna invalidnost]] i smanjena [[oštrina vida]].<ref name=Bosch2014>Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics 94: 303-309</ref><ref name=Chen2016>Chen CA, Bosch DG, Cho MT7, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C (2016)The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine. 18(11):1143-1150.</ref><ref name=Chen2019>Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP (2019) Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. 2020;29(5):705-715. {{PMID|31600777}}. PMCID PMC7104670. doi 10.1093/hmg/ddz233 </ref>
'''Bosch-Boonstra-Schaafov sindrom optičke atrofije''' jest rijetko [[autosom]]no nasljedno stanje koje karakterizira [[zaostajanje u razvoju]], [[intelektualna invalidnost]] i smanjena [[oštrina vida]].<ref name=Bosch2014>Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics 94: 303-309</ref><ref name=Chen2016>Chen CA, Bosch DG, Cho MT7, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C (2016)The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine. 18(11):1143-1150.</ref><ref name=Chen2019>Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP (2019) Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. 2020;29(5):705-715. {{PMID|31600777}}. PMCID PMC7104670. doi 10.1093/hmg/ddz233</ref>


==Ispoljavanje==
==Ispoljavanje==
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== Vanjski linkovi ==
== Vanjski linkovi ==

{{DEFAULTSORT:Bosch-Boonstra-Schaaf optic atrophy syndrome}}
{{DEFAULTSORT:Bosch-Boonstra-Schaaf optic atrophy syndrome}}
[[Kategorija:Geni na hromosomu 5]]
[[Kategorija:Geni na hromosomu 5]]

Trenutna verzija na dan 12 januar 2022 u 14:29

Sindrom Bosch-Boonstra-Schaafove očne atrofije
(BBSOAS [1])
Ovo stanje nasljeđuje se autosomno dominantnim putem
Klasifikacija i vanjski resursi
OMIM615722

Bosch-Boonstra-Schaafov sindrom optičke atrofije jest rijetko autosomno nasljedno stanje koje karakterizira zaostajanje u razvoju, intelektualna invalidnost i smanjena oštrina vida.[2][3][4]

Ispoljavanje[uredi | uredi izvor]

Svi opisani pacijenti patili su od zaostajanja u razvoju, intelektualne ometenosti (raspon koeficijenta inteligencije 48–74) i smanjene vidne oštrine. Očne abnormalnosti uključuju male diskove, blijede diskove, ekskavaciju diska, strabizam i latentni nistagmus.

Ostale karakteristike ovog stanja su donekle varijabilne i uključuju

  • Nega lica
    • Naborane uši
    • Spiralne anomalije
    • Mali nosni greben
    • Visoki nosni most
    • Zaokrenut nos
    • Epikanusne nabore
    • Uzdignute palpebralne pukotine
  • Skeletni

Genetika[uredi | uredi izvor]

Ovo stanje je uzrokovano mutacijama u genu NR2F1, na dugom kraku hromosoma 5 (5q15). Gen kodira protein koji djeluje kao jedarni receptor i regulator transkripcije. Ovo stanje se nasljeđuje po obrascu autosomno dominantnih svojstava.

Epidemiologija[uredi | uredi izvor]

Ovo stanje se smatra rijetkim, s manje od 50 slučajeva opisanih u literaturi do 2019.

Historija[uredi | uredi izvor]

Ovo stanje je prvi put opisano 2014.[5]

Reference[uredi | uredi izvor]

  1. ^ "OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Pristupljeno 19. 1. 2020.
  2. ^ Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics 94: 303-309
  3. ^ Chen CA, Bosch DG, Cho MT7, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C (2016)The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine. 18(11):1143-1150.
  4. ^ Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP (2019) Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. 2020;29(5):705-715. PubMed. PMCID PMC7104670. doi 10.1093/hmg/ddz233
  5. ^ Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303–309.

Vanjski linkovi[uredi | uredi izvor]

Preuzeto iz "https://bs.wikipedia.org/w/index.php?title=Bosch-Boonstra-Schaafov_sindrom_optičke_atrofije&oldid=3391345"