Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia.
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چکیده
published by kzhang on Mon, 09/08/2014 4:25pm Title Novel human pathological mutations. Gene symbol: NROB1. Disease: adrenal hypoplasia. Publication Type Journal Article Year of Publication 2009 Authors Nie, M, Fu, Y, Lu, L, Pan, H, Mao, J, Chen, Z, Zhang, K, Xia, W, Xing, X, Meili, S, Lu, Z Journal Hum Genet Volume 125 Issue 3 Pagination 348 Date Published 2009 Apr ISSN 1432-1203
منابع مشابه
A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
Adrenal hypoplasia congenita (AHC) is a rare disease that can be caused by many abnormalities, including an X-linked form. Mutations in the DAX1 gene have been assigned as the genetic cause of AHC. We describe here three siblings with AHC, clinically presented at different ages, two in the neonatal period and one oligosymptomatic during infancy. Molecular analysis was able to detect a novel mut...
متن کاملX-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes
X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laboratory studies showed prominent hyponatremia and hyperkaliemia but not hypoglycemia. Primary adrenal insufficiency was confirmed with low serum cortiso...
متن کاملA novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
OBJECTIVE X-linked Adrenal Hypoplasia Congenita (AHC) is a rare disorder caused by mutations in NR0B1 (DAX1) gene. DESIGN We present two boys (cousins) with AHC who came to our attention at the age of 10 days and 15 days, respectively, in a life-threatening state. Laboratory studies in their neonatal periods showed hyponatremia and hyperkalemia. Primary adrenal insufficiency was confirmed, wi...
متن کاملX-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.
X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn. Family history was r...
متن کاملAnalysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
CONTEXT Primary adrenal failure is a life-threatening condition that can be caused by a range of etiologies, including autoimmune, metabolic, and developmental disorders. The nuclear receptors DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) play an important role in adrenal development and function, and mutations in these transcription factors have been found in patients with adrenal...
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ورودعنوان ژورنال:
- Human genetics
دوره 125 3 شماره
صفحات -
تاریخ انتشار 2009