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Congenital nuclear cataract

MedGen UID:
450994
•Concept ID:
C0158551
•
Congenital Abnormality
Synonyms: Cataract, congenital nuclear; Cataract, embryonal nuclear
SNOMED CT: Congenital nuclear cataract (5361003); Embryonal nuclear cataract (5361003)

Professional guidelines

PubMed

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
Qi C, He Y, Jiang C, Zhang X, Zhu P, Li W, Zhou H, Xue C, Xia X
Mol Med Rep 2023 Jun;27(6) Epub 2023 May 11 doi: 10.3892/mmr.2023.13008. PMID: 37165913Free PMC Article
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS
Ophthalmic Genet 2012 Jun;33(2):89-95. Epub 2012 Jan 9 doi: 10.3109/13816810.2011.634881. PMID: 22229851
The Infant Aphakia Treatment Study: evaluation of cataract morphology in eyes with monocular cataracts.
Wilson ME, Trivedi RH, Morrison DG, Lambert SR, Buckley EG, Plager DA, Lynn MJ; Infant Aphakia Treatment Study Group
J AAPOS 2011 Oct;15(5):421-6. doi: 10.1016/j.jaapos.2011.05.016. PMID: 22108352Free PMC Article

Recent clinical studies

Etiology

A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Qi Y, Jia H, Huang S, Lin H, Gu J, Su H, Zhang T, Gao Y, Qu L, Li D, Li Y
Hum Genet 2004 Jan;114(2):192-7. Epub 2003 Nov 4 doi: 10.1007/s00439-003-1049-7. PMID: 14598164

Diagnosis

A novel WFS1 variant associated with isolated congenital cataracts.
Krutish A, Elmore J, Ilse W, Johnston JL, Hittel D, Kerr M, Khan A, Rockman-Greenberg C, Mhanni AA; Canadian Prairie Metabolic Network (CPMN)
Cold Spring Harb Mol Case Stud 2023 Feb;9(1) Epub 2023 Mar 24 doi: 10.1101/mcs.a006259. PMID: 36781206Free PMC Article
A novel MIP mutation in familial congenital nuclear cataracts.
Qin L, Guo L, Wang H, Li T, Lou G, Guo Q, Hou Q, Liu H, Liao S, Liu Z
Eur J Med Genet 2016 Sep;59(9):488-91. Epub 2016 Jul 22 doi: 10.1016/j.ejmg.2016.07.002. PMID: 27456987
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA
PLoS One 2015;10(9):e0137973. Epub 2015 Sep 24 doi: 10.1371/journal.pone.0137973. PMID: 26402864Free PMC Article
Molecular genetics of congenital nuclear cataract.
Deng H, Yuan L
Eur J Med Genet 2014 Feb;57(2-3):113-22. Epub 2013 Dec 30 doi: 10.1016/j.ejmg.2013.12.006. PMID: 24384146
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
Li XQ, Cai HC, Zhou SY, Yang JH, Xi YB, Gao XB, Zhao WJ, Li P, Zhao GY, Tong Y, Bao FC, Ma Y, Wang S, Yan YB, Lu CL, Ma X
Hum Mutat 2012 Feb;33(2):391-401. Epub 2011 Dec 8 doi: 10.1002/humu.21648. PMID: 22052681

Therapy

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Chen Q, Ma J, Yan M, Mothobi ME, Liu Y, Zheng F
Mol Vis 2009 Jul 10;15:1359-65. PMID: 19597569Free PMC Article

Prognosis

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Guo R, Huang D, Ji J, Liu W
BMC Ophthalmol 2022 Apr 15;22(1):172. doi: 10.1186/s12886-022-02386-y. PMID: 35428228Free PMC Article
A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.
Ji Y, Zhao X, Zhang J, Zhang D, Tian C, Zhang L, Zhao Y, Zhao J
Eur J Ophthalmol 2021 May;31(3):1064-1069. Epub 2020 Mar 30 doi: 10.1177/1120672120914497. PMID: 32223445
A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes.
Si N, Song Z, Meng X, Li X, Xiao W, Zhang X
Gene 2019 Apr 15;692:113-118. Epub 2019 Jan 17 doi: 10.1016/j.gene.2019.01.011. PMID: 30659945
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
Hadrami M, Bonnet C, Veten F, Zeitz C, Condroyer C, Wang P, Biya M, Sidi Ahmed MA, Zhang Q, Cheikh S, Audo I, Petit C, Houmeida A
Eur J Ophthalmol 2019 Nov;29(6):621-628. Epub 2018 Oct 29 doi: 10.1177/1120672118804757. PMID: 30373400
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.
Wang KJ, Li SS, Yun B, Ma WX, Jiang TG, Zhu SQ
Mol Vis 2011 Jan 8;17:70-7. PMID: 21245956Free PMC Article

Clinical prediction guides

A novel frameshift variant in BCOR causes congenital nuclear cataract.
Berry V, Ponnekanti MB, Pontikos N, Quinlan RA, Michaelides M
Ophthalmic Genet 2024 Dec;45(6):591-595. Epub 2024 Jul 3 doi: 10.1080/13816810.2024.2373248. PMID: 38957147Free PMC Article
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Guo R, Huang D, Ji J, Liu W
BMC Ophthalmol 2022 Apr 15;22(1):172. doi: 10.1186/s12886-022-02386-y. PMID: 35428228Free PMC Article
A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.
Ji Y, Zhao X, Zhang J, Zhang D, Tian C, Zhang L, Zhao Y, Zhao J
Eur J Ophthalmol 2021 May;31(3):1064-1069. Epub 2020 Mar 30 doi: 10.1177/1120672120914497. PMID: 32223445
Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract.
Wang KJ, Da Wang J, Chen DD, Wang MY, Yun B, Zhu SQ
J Formos Med Assoc 2020 Jan;119(1 Pt 1):144-149. Epub 2019 Mar 27 doi: 10.1016/j.jfma.2019.02.015. PMID: 30928190
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.
Zhuang X, Wang L, Song Z, Xiao W
PLoS One 2015;10(7):e0131471. Epub 2015 Jul 6 doi: 10.1371/journal.pone.0131471. PMID: 26147294Free PMC Article

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