Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia
نویسندگان
چکیده
منابع مشابه
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
PURPOSE To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. METHODS Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonog...
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A study of the development of the eye in the cinnamon mouse, homozygous for the gene for microphthalmia (mi), has shown that the microphthalmia is due to failure of secondary vitreous formation associated with a coloboma. The retina is dystrophic but there is a residual population of large ganglion cells and the optic nerve also contains ganglion cells. All these ganglion cells have cytoplasm s...
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De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via the Deciphering Developmental Disorders (DDD) Study, one through clinical analysis for copy number variation and the remaining two (monozygotic twins...
متن کاملThe prenatal development of the optic fissure in colobomatous microphthalmia.
The coloboma in the cinnamon mouse homozygous for the microphthalmia gene is caused when optic fissure closure, which normally occurs between the 11th and the 13th gestational day, does not occur. This study sought to determine the cause of this fusion failure, and to identify any foci of fusion that occur later in gestation. Microphthalmic fetuses from the 11th-20th gestational day were obtain...
متن کاملMutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
As a result of a whole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of the COPII complex involved in protein export from the ER: the truncating mutation c.613C>T (p.Gln205(∗)) and the missense mutations c.3044C>T (p.Ser1015Phe, located in a cargo-binding pocket) and c.2933A>C (p.Gln978Pro, located in the gelsolin-like domain). Three individuals f...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2013
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.01.008