Bosch-Boonstra-Schaafov sindrom optičke atrofije

Sindrom Bosch-Boonstra-Schaafove očne atrofije
(BBSOAS ^[1])
Sindrom Bosch-Boonstra-Schaafove očne atrofije; (BBSOAS )
	Ovo stanje nasljeđuje se autosomno dominantnim putem Oblast: Medicinska genetika; Uzroci: Mutacije u genu NR2F1;
Klasifikacija i vanjski resursi
OMIM	615722

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

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
- Konusni prsti
- Hipotonija

Genetika

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

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

Historija

Ovo stanje je prvi put opisano 2014.^[5]

Reference

^ "OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Pristupljeno 19. 1. 2020.
^ 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
^ 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.
^ 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
^ 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

[1] "OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Pristupljeno 19. 1. 2020.

[Bosch2014-2] 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

[Chen2016-3] 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.

[Chen2019-4] 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

[Bosch2014a-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.

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