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Can I read Role of a Founder c.201\_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians on EtoBox?
Role of a Founder c.201\_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians by Maha Abdulhadi-Atwan; Amy Jean; Wendy K. Chung; Karen Meir; Ziva Ben Neriah; George Stratigopoulos; Sharon E. Oberfield; Ilene Fennoy; Harry J. Hirsch; Amrit Bhangoo; Svetlana Ten; Israela Lerer; David H. Zangen is a Medicine article available to read on EtoBox.
What is Role of a Founder c.201\_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians about?
Context: Congenital lipoid adrenal hyperplasia (CLAH), caused by mutations in steroidogenic acute regulatory protein (StAR), is most frequent in Japanese and Palestinians. We report eight Palestinians from four unrelated families with CLAH. ## Objective: The objective of the study was to identify the mutation(s) in StAR, correlate genotype with phenotype, and determine whether the common mutation represents a founder mutation. Patients and Setting: Clinical, histopathological, and molecular genetic characterization was performed in these eight patients. Results: All affected individuals (three XY, five XX) presented neonatally with undetectable adrenocortical hormones and are responding to replacement therapy. Only two sisters had neurodevelopmental deficits. Histopathological findings of excised XY gonads included accumulation of fat in Leydig cells. Significantly, already at 1 yr of age, positive placental alkaline phosphatase and octamer binding transcription factor staining indicated neoplastic potential. Sequence analysis of StAR revealed homozygosity for c.201\_202delCT mutation in all eight cases, causing premature termination of the StAR protein. This mutation was confirmed
Who reads Role of a Founder c.201\_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Maha Abdulhadi-Atwan; Amy Jean; Wendy K. Chung; Karen Meir; Ziva Ben Neriah; George Stratigopoulos; Sharon E. Oberfield; Ilene Fennoy; Harry J. Hirsch; Amrit Bhangoo; Svetlana Ten; Israela Lerer; David H. Zangen
- Publisher
- Endocrine Society; The Endocrine Society; Oxford University Press (ISSN 0021-972X)
- Published
- 2007
- Language
- EN
- Field
- Medicine (Health Sciences)