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Microcephaly and chorioretinopathy

MedGen UID:
946264
•Concept ID:
CN263236
•
Disease or Syndrome
Synonym: microcephaly and chorioretinopathy
 
Related genes: TUBGCP6, TUBGCP4, PLK4
 
Monarch Initiative: MONDO:0000181
OMIM® Phenotypic series: PS251270

Professional guidelines

PubMed

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. PMID: 33137195Free PMC Article

Recent clinical studies

Etiology

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. PMID: 33137195Free PMC Article
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S
Am J Hum Genet 2012 Feb 10;90(2):356-62. Epub 2012 Jan 26 doi: 10.1016/j.ajhg.2011.12.018. PMID: 22284827Free PMC Article

Diagnosis

Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.
Yahalom C, Woods RL, Akula JD, Tan WH, Fulton A
Ophthalmic Genet 2023 Dec;44(6):585-590. Epub 2023 Apr 10 doi: 10.1080/13816810.2023.2170424. PMID: 37038737
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M
Am J Med Genet A 2023 Jul;191(7):1935-1941. Epub 2023 Apr 9 doi: 10.1002/ajmg.a.63203. PMID: 37031378
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. PMID: 33137195Free PMC Article
TUBGCP4 - associated microcephaly and chorioretinopathy.
Da Palma MM, Motta FL, Takitani GEDS, Salles MV, Lima LH, Ferraz Sallum JM
Ophthalmic Genet 2020 Apr;41(2):189-193. Epub 2020 Apr 9 doi: 10.1080/13816810.2020.1747084. PMID: 32270730
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S
Am J Med Genet A 2014 Nov;164A(11):2879-86. Epub 2014 Aug 12 doi: 10.1002/ajmg.a.36707. PMID: 25115524Free PMC Article

Prognosis

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. PMID: 33137195Free PMC Article
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K
JAMA Ophthalmol 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. PMID: 25124931
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S
Am J Hum Genet 2012 Feb 10;90(2):356-62. Epub 2012 Jan 26 doi: 10.1016/j.ajhg.2011.12.018. PMID: 22284827Free PMC Article

Clinical prediction guides

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.
Martín-Rivada Á, Pozo-Román J, Güemes M, Ortiz-Cabrera NV, Pérez-Jurado LA, Argente J
Horm Res Paediatr 2020;93(9-10):567-572. Epub 2021 Mar 23 doi: 10.1159/000514280. PMID: 33756487
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF, Simonett JM, Parker MA, Mitchell A, Grigorian F, Lifton J, Nagiel A, Shpak AA, Dadali EL, Mishina IA, Weleber RG, Yang P, Pennesi ME
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2. PMID: 33137195Free PMC Article
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H
Eur J Hum Genet 2016 Dec;24(12):1702-1706. Epub 2016 Sep 21 doi: 10.1038/ejhg.2016.119. PMID: 27650967Free PMC Article
Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.
Pastora N, Peralta J, Canal-Fontcuberta I, Grabowska A, Pulido JS, Abelairas J, Armada F, Garcia-Alix A
Ophthalmic Genet 2012 Jun;33(2):116-8. Epub 2012 Mar 15 doi: 10.3109/13816810.2011.626012. PMID: 22420539
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S
Am J Hum Genet 2012 Feb 10;90(2):356-62. Epub 2012 Jan 26 doi: 10.1016/j.ajhg.2011.12.018. PMID: 22284827Free PMC Article

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