Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa [1]

Clinical Genetics

Volumn 73, Issue 4, 2008, Pages 385-387

  Chang, A J ^a   Kline, M M ^a   Currie, Y ^a,b   Perez, M O ^a,b   Hartiala, J ^a,b   Wijesuriya, H ^a,b   Buchanan, T A ^a,b   Watanabe, R M ^a,b   Allayee, Hooman ^a,b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GENE PRODUCT; GUANINE; PROTEIN AAAS; UNCLASSIFIED DRUG;

ADULT; ALLGROVE SYNDROME; AMINO ACID SUBSTITUTION; ANAMNESIS; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC PREDISPOSITION; HAPLOTYPE; HETEROZYGOTE; HISPANIC; HUMAN; LETTER; MALE; MUTATIONAL ANALYSIS; NORTH AFRICA; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; AFRICA, NORTHERN; CHILD; ESOPHAGEAL ACHALASIA; FEMALE; FOUNDER EFFECT; HUMANS; LACRIMAL APPARATUS DISEASES; MALE; MEXICAN AMERICANS; MUTATION; SYNDROME;

EID: 40749083221     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00965.x     Document Type: Letter

References (11)

1. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978: 1 (8077): 1284-1286.
2. Brooks BP, Kleta R, Stuart C et al. Genotypic heterogeneity and clinical phenotype in triple A syndrome: A review of the NIH experience 2000-2005. Clin Genet 2005: 68 (3): 215-221.
3. Weber A, Wienker TF, Jung M et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet 1996: 5 (12): 2061-2066.
4. Tullio-Pelet A, Salomon R, Hadj-Rabia S et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000: 26 (3): 332-335.
5. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001: 10 (3): 283-290.
6. Human Gene Mutation Database. Retrieved 2007, from http://www.hgmd.cf.ac.uk/ac/
7. Watanabe RM, Allayee H, Xiang AH et al. Transcription factor 7-like 2 (TCF7L2) is associated with gestational diabetes mellitus and interacts with adiposity to alter insulin secretion in Mexican Americans. Diabetes 2007: 56 (5): 1481-1485.
8. Houlden H, Smith S, De Carvalho M et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002: 125 (Pt 12): 2681-2690.
9. Genin E, Tullio-Pelet A, Begeot F, Lyonnet S, Abel L. Estimating the age of rare disease mutations: The example of Triple-A syndrome. J Med Genet 2004: 41 (6): 445-449.
10. Prpic I, Huebner A, Persic M, Handschug K, Pavletic M. Triple A syndrome: Genotype-phenotype assessment. Clin Genet 2003: 63 (5): 415-417.
11. Sandrini F, Farmakidis C, Kirschner LS et al. Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin. J Clin Endocrinol Metab 2001: 86 (11): 5433-5437.