Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations
نویسندگان
چکیده
منابع مشابه
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases. Proceedings of the Greenwood Genetic Center. 7, 57.] has a 2.7 Mb deletion encompassing SOX2 and associated with a cryptic translocation t(3;7)(q28;p21.3). The deletion and translocation break...
متن کاملSOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?
To the Editor : Heterozygous, loss of function mutations in the high mobility group (HMG) gene, SOX2 , encoding the sex-determining region Y-box 2 (MIM 184429) protein, lead to severe developmental eye and brain malformations, and some anophthalmos-esophagealgenital syndrome cases (1). However, the fate of these cases into adulthood is unknown. We report an adult with SOX2 anophthalmia syndrome...
متن کاملParent-of-origin effects in SOX2 anophthalmia syndrome
PURPOSE Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. The syndrome is usually caused by de novo mutations or deletions in the transcription factor SOX2. To investigate any potential parental susceptibility factors, we s...
متن کاملIdentification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia
PURPOSE Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia. In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10. METHODS Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening o...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2016
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37849