Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
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چکیده
منابع مشابه
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and microtubule-associated components such as doublecortin, and LIS1. Mutations in the...
متن کاملHypoplasia of the optic nerve.
Hypoplasia of the optic nerve is uncommon (Scheie and Adler, I94I; Somerville, I962; Whinery and Blodi, I963; Ewald, I967). It is usually due to a failure of development of the ganglion cell layer of the retina and results in a small but discernible optic disc with central vessels. The disc may be cupped with a peripapillary, mottled, yellowish halo corresponding to the size of the normal disc,...
متن کاملOptic Nerve Hypoplasia
Congenital anomalies of the optic disc underlie many cases of decreased vision, strabismus, and nystagmus in childhood. A comprehensive evaluation necessitates an understanding of the ophthalmoscopic features, associated neuro-ophthalmologic findings, pathogenesis, and appropriate ancillary studies for each anomaly. The subclassification of different forms of “colobomatous” defects on the basis...
متن کاملSpectrum of optic nerve hypoplasia.
Optic nerve hypoplasia is a non-progressive condition characterised by subnormal vision and a subnormal number of optic nerve axons. It may be unilateral or bilateral, isolated or combined with other defects. Analysis of fundus photographs from a series of 7 patients with a stationary abnormality of different degrees showed that the functional defects could be closely correlated with defects in...
متن کاملThe syndrome of optic nerve hypoplasia.
The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-optic dysplasia, which has evolved to include midline brain malformations and hypopituitarism. Evidence now suggests that ONH infrequently occurs ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2009
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.10.007