Homoziqot med25 mutasiyasi ilə əlaqəli zehni gerilik sindromu

Mursalova Z.Sh.; Rahimova N.J.; Abbasaliyeva A.I.; Agayeva G.F.

doi:10.28942/jpp.v9i2.202

Vol. 9 No. 2 (2023)

Clinical Practice Guidelines

Mental retardation syndrome associated with homozygous med25 mutation

Published: September 25, 2024

DOI: https://doi.org/10.28942/jpp.v9i2.202

Abstract

Basel Vanagaite Smirin Yosef syndrome is a rare genetic mental deficiency syndrome caused by an autosomal recessive mutation of the MED 25 gene. Features such as severe physical and psychomotor retardation, microcephaly, visual pathologies such as congenital cataracts, congenital heart defects, genitourinary anomalies, musculoskeletal pathologies, variable craniofacial signs and seizures are common clinical features in most patients. This article describes Basel Vanagaite Smirin Yosef syndrome with a p.(C.518 T>C p.Ile173Thr) homozygous mutation in MED25 using exome sequencing.

References

Abouelhoda M, Sobahy T, El-Kalioby M, Patel N, Shamseldin H, et al. Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Genet Med 18:1244–1249 (2016).

Alkuraya FS: Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet Chapter 6:Unit6.12 (2012).

Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, et al: Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet 134:577–587 (2015).

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, et al. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. J Med Genet. 2015;52:123–127.

Nair P, Lama M, El-Hayek S, Sleymane GA, Stora S, Obeid M, Al-Ali MT, Delague V, Mégarbané A (2018) COQ8A and MED25 mutations in a child with intellectual disability, microcephaly, seizures and spastic ataxia: synergistic effect of digenic variants? Mol Syndromol

:319–323. https://doi.org/10.1159/000494465

Pollack L., Prasad Ch., Goobie Sh. et all. Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients// First published: 23 April 2020, Americal Journal of Medical genetics // odhttps://doi.org/10.1002/ajmg.a.61603.

Maini, I., Errichiello, E., Caraffi, S.G. et al. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding. Neurogenetics 22, 19–25 (2021). https://doi.org/10.1007/s10048-020-

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Mental retardation syndrome associated with homozygous med25 mutation

Abstract

References

Keywords

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