Mutation analysis ofB3GALTLin Peters Plus syndrome
نویسندگان
چکیده
منابع مشابه
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.
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Peters' plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters' plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a cl...
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A case of bilateral Peters anomaly with missing kidney on left was examined. The case of missing kidney in Peters anomaly has not been reported in literature to our knowledge, making this case a unique one.
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Peters Plus syndrome (PPS), a congenital disorder of glycosylation, results from recessive mutations affecting the glucosyltransferase B3GLCT, leading to congenital corneal opacity and diverse extra-ocular manifestations. Together with the fucosyltransferase POFUT2, B3GLCT adds Glucoseβ1-3Fucose disaccharide to a consensus sequence in thrombospondin type 1 repeats (TSRs) of several proteins. Wh...
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BACKGROUND O-fucose is added to cysteine-rich domains called thrombospondin type 1 repeats (TSRs) by protein O-fucosyltransferase 2 (POFUT2) and is elongated with glucose by β3-glucosyltransferase (B3GLCT). Mutations in B3GLCT result in Peters plus syndrome (PPS), an autosomal recessive disorder characterized by eye and other developmental defects. Although 49 putative targets are known, the fu...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2008
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.32498