X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions
نویسندگان
چکیده
منابع مشابه
Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita.
CONTEXT X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically pre...
متن کاملPolyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
Polyalanine expansion mutations have been identified in eight transcription factors that are associated with a range of congenital disorders. While some of these mutant proteins have been shown to generate cellular aggregates in heterologous cell lines, little is known about the mechanism by which these aggregates cause disease. Here we examine the aggregation and functional properties of the t...
متن کاملGenetics of Isolated Growth Hormone Deficiency
When a child is not following the normal, predicted growth curve, an evaluation for underlying illnesses and central nervous system abnormalities is required, and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency (GHD). Because Insulin-like Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be considered as a form of IGF-I deficiency (...
متن کاملExpanding the Phenotypic Spectrum of Olmsted Syndrome
are of Slavic origin, suggesting an ancestral mutation propagated through Slavic migration to Northern Romania and Eastern Germany, where our patients are living. Nevertheless, the mutation affects a CpG dinucleotide, which has a high mutation rate from 5methylated CG to TG and its complementary pair CA, suggesting that it could also be recurrent. Altogether, we show that KS patients may harbor...
متن کاملPolyalanine expansions in human.
Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in roughly 500 human proteins among which nine have been ascribed to disease phen...
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ژورنال
عنوان ژورنال: Clinical Dysmorphology
سال: 2009
ISSN: 0962-8827
DOI: 10.1097/mcd.0b013e32832d06f0