Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Research Abstract Details 

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Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Abstract Text:

Catherine E Keegan,Janna E Hutz,Andrea S Krause,Katrin Koehler,Louise A Metherell,Sosipatros Boikos,Sotirios Stergiopoulos,Adrian J L Clark,Constantine A Stratakis,Angela Huebner,Gary D Hammer,Catherine E Keegan,Janna E Hutz,Andrea S Krause,Katrin Koehler,Louise A Metherell,Sosipatros Boikos,Sotirios Stergiopoulos,Adrian J L Clark,Constantine A Stratakis,Angela Huebner,Gary D Hammer,

OBJECTIVE: ACTH resistance is a feature of several human syndromes with known genetic causes, including familial glucocorticoid deficiency (types 1 and 2) and triple A syndrome. However, many patients with ACTH resistance lack an identifiable genetic aetiology. The human homolog of the Acd gene, mutated in a mouse model of adrenal insufficiency, was sequenced in 25 patients with a clinical diagnosis of familial glucocorticoid deficiency or triple A syndrome. DESIGN: A 3.4 kilobase genomic fragment containing the entire ACD gene was analysed for mutations in all 25 patients. SETTING: Samples were obtained by three investigators from different institutions. PATIENTS: The primary cohort consisted of 25 unrelated patients, primarily of European or Middle Eastern descent, with a clinical diagnosis of either familial glucocorticoid deficiency (FGD) or triple A syndrome. Patients lacked mutations in other genes known to cause ACTH resistance, including AAAS for patients diagnosed with triple A syndrome and MC2R and MRAP for patients diagnosed with familial glucocorticoid deficiency. Thirty-five additional patients with adrenal disease phenotypes were added to form an expanded cohort of 60 patients. MEASUREMENTS: Identification of DNA sequence changes in the ACD gene in the primary cohort and analysis of putative ACD haplotypes in the expanded cohort. RESULTS: No disease-causing mutations were found, but several novel single nucleotide polymorphisms (SNPs) and two putative haplotypes were identified. The overall frequency of SNPs in ACD is low compared to other gene families. CONCLUSIONS: No mutations were identified in ACD in this collection of patients with ACTH resistance phenotypes. However, the newly identified SNPs in ACD should be more closely examined for possible links to disease.

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Publishing Authors By Initials

CE Keegan,JE Hutz,AS Krause,K Koehler,LA Metherell,S Boikos,S Stergiopoulos,AJ Clark,CA Stratakis,A Huebner,GD Hammer,CE Keegan,JE Hutz,AS Krause,K Koehler,LA Metherell,S Boikos,S Stergiopoulos,AJ Clark,CA Stratakis,A Huebner,GD Hammer,

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Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical endocrinology

VOLUME: 67

Page Numbers: 168-74

Journal Abbreviation: Clin. Endocrinol. (Oxf)

ISSN: 0300-0664

DAY: 27

MONTH: 04

YEAR: 2007

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Information

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LANGUAGE: eng

NlmUniqueID: 346653

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Grant and Affiliation Information for Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

AFFILIATION: Department of Pediatrics, Division of Genetics, University of Michigan Medical School, 1150 W. Medical Center Drive, Ann Arbor, MI 48109, USA. keeganc@med.umich.edu

Country: England

AGENCY: United States NIDDK

GRANT: R01 DK 62027

ACRONYM: DK

MEDLINETA: Clin Endocrinol (Oxf)

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