Microphthalmia, syndromic

Definition:

Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal system and the craniofacial region with anomalies of the face, ear and neck.

References:

[1]. Alan F Scott, et al. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. [Content Brief]

[2]. Amit S Verma, et al. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007 Nov 26;2:47. [Content Brief]

[3]. Anne M Slavotinek, et al. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec;104(4):448-56. [Content Brief]

[4]. Anne M Slavotinek, et al. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum Mutat. 2012 Feb;33(2):364-8. [Content Brief]

[5]. Bharti Singh, et al. Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. Eur J Med Genet. 2019 Jan;62(1):61-64. [Content Brief]

[6]. Brett Deml, et al. Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. PLoS Genet. 2015 Feb 26;11(2):e1005002. [Content Brief]

[7]. David Ng, et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004 Apr;36(4):411-6. [Content Brief]

[8]. Francesca Pasutto, et al. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet. 2007 Mar;80(3):550-60. [Content Brief]

[9]. Isabella Wimplinger, et al. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006 Nov;79(5):878-89. [Content Brief]

[10]. Judy Fantes, et al. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003 Apr;33(4):461-3. [Content Brief]

[11]. Myriam Srour, et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet. 2013 Oct 3;93(4):765-72. [Content Brief]

[12]. Nicola K Ragge, et al. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet. 2005 Jun;76(6):1008-22. [Content Brief]

[13]. Preeti Bakrania, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet. 2008 Feb;82(2):304-19. [Content Brief]

[14]. Tanya M Bardakjian, et al. The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. [Content Brief]

[15]. Taraneh Esmailpour, et al. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014 Mar;51(3):185-96. [Content Brief]

[16]. Vera A Voronina, et al. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet. 2004 Feb 1;13(3):315-22. [Content Brief]

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