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Syndromic Microphthalmia, Dominant

MedGen UID:
893605
•Concept ID:
CN239443
•
Disease or Syndrome

Professional guidelines

PubMed

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.
Mezad-Koursh D, Rosenfeld E, Bachar Zipori A, Zur D, Elhanan E, Ben-Shachar S
Eur J Hum Genet 2023 Jan;31(1):125-127. Epub 2022 Oct 20 doi: 10.1038/s41431-022-01195-7. PMID: 36261622Free PMC Article
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article

Recent clinical studies

Etiology

Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension.
Andijani AA, Shajira ES, Abushaheen A, Al-Matary A
Am J Case Rep 2019 Mar 18;20:354-360. doi: 10.12659/AJCR.912873. PMID: 30880327Free PMC Article
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, Donaldson C, Smith JE, Flaherty M, Jamieson RV
JAMA Ophthalmol 2013 Dec;131(12):1517-24. doi: 10.1001/jamaophthalmol.2013.5305. PMID: 24177921
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII).
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989
Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.
Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY
Genomics 1998 Jul 15;51(2):251-61. doi: 10.1006/geno.1998.5350. PMID: 9722948
The branchio-oculo-facial syndrome.
Lin AE, Losken HW, Jaffe R, Biglan AW
Cleft Palate Craniofac J 1991 Jan;28(1):96-102. doi: 10.1597/1545-1569_1991_028_0096_tbofs_2.3.co_2. PMID: 2004100

Diagnosis

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.
Satcher KG, Maegawa GHB, Schoch JJ
Pediatr Dermatol 2020 Jan;37(1):217-218. Epub 2019 Aug 2 doi: 10.1111/pde.13946. PMID: 31373408
Oculodentodigital dysplasia.
Doshi DC, Limdi PK, Parekh NV, Gohil NR
Indian J Ophthalmol 2016 Mar;64(3):227-30. doi: 10.4103/0301-4738.180191. PMID: 27146935Free PMC Article
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, Donaldson C, Smith JE, Flaherty M, Jamieson RV
JAMA Ophthalmol 2013 Dec;131(12):1517-24. doi: 10.1001/jamaophthalmol.2013.5305. PMID: 24177921
Conradi-Hünermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155

Therapy

Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo.
Indrieri A, Grimaldi C, Zucchelli S, Tammaro R, Gustincich S, Franco B
Sci Rep 2016 Jun 6;6:27315. doi: 10.1038/srep27315. PMID: 27265476Free PMC Article
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.
Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P
Am J Med Genet B Neuropsychiatr Genet 2012 Mar;159B(2):236-42. Epub 2012 Jan 5 doi: 10.1002/ajmg.b.32020. PMID: 22223473
Conradi-Hünermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.
Morleo M, Franco B
J Med Genet 2008 Jul;45(7):401-8. Epub 2008 May 7 doi: 10.1136/jmg.2008.058305. PMID: 18463129
The heterogeneity of microphthalmia in the mentally retarded.
Warburg M
Birth Defects Orig Artic Ser 1971 Mar;7(3):136-54. PMID: 4950916

Prognosis

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q
Invest Ophthalmol Vis Sci 2023 Mar 1;64(3):19. doi: 10.1167/iovs.64.3.19. PMID: 36892533Free PMC Article
BCOR variants are associated with X-linked recessive partial epilepsy.
Li X, Bian WJ, Liu XR, Wang J, Luo S, Li BM, Yi YH, Wu QY, Zhai QX, Gao LD, Zhang HF, He N, Liao WP; China Epilepsy Gene 1.0 Project
Epilepsy Res 2022 Nov;187:107036. Epub 2022 Oct 19 doi: 10.1016/j.eplepsyres.2022.107036. PMID: 36279688
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.
Satcher KG, Maegawa GHB, Schoch JJ
Pediatr Dermatol 2020 Jan;37(1):217-218. Epub 2019 Aug 2 doi: 10.1111/pde.13946. PMID: 31373408
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S
BMC Med Genet 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6. PMID: 30200890Free PMC Article
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII).
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989

Clinical prediction guides

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N
J Med Genet 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. PMID: 37586836
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q
Invest Ophthalmol Vis Sci 2023 Mar 1;64(3):19. doi: 10.1167/iovs.64.3.19. PMID: 36892533Free PMC Article
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
Indrieri A, Franco B
Genes (Basel) 2021 Feb 11;12(2) doi: 10.3390/genes12020263. PMID: 33670341Free PMC Article
Developmental neurogenetics and neuro-ophthalmology.
Bennett JL
J Neuroophthalmol 2002 Dec;22(4):286-96. doi: 10.1097/00041327-200212000-00006. PMID: 12464733

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