ALLGROVE (TRIPLE-A) SYNDROME IN PUERTO RICAN KINDREDS MAPS TO CHROMOSOME 12(12q13). † 630

Stratakis, Constantine A.; Lin, Jing-Ping; Pras, Elon; Wu, Shao-Ming; Rennert, Owen M.; Bourdony, Carlos J.; Chan, Wai-Yee

doi:10.1203/00006450-199704001-00650

Cited by 17 publications

(20 citation statements)

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“…1 The triple A gene has been previously mapped to chromosome 12q13 in a 6 cM interval between loci D12S1629 and D12S312. 9,18 In order to refine this interval, we have extended linkage analysis to 12 triple A families using additional polymorphic DNA markers chosen in the vicinity of the triple A gene locus. By genotyping 22 affected individuals and their 45 relatives, we confirmed that the triple A gene maps to the 12q13 region and suggest that triple A is probably a genetically homogeneous disorder in patients of North African ancestry.…”

Section: Discussionmentioning

confidence: 99%

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

et al. 2000

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Triple A syndrome (Allgrove syndrome, MIM No. 231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, achalasia of the cardia, and alacrimia. The triple A gene has been previously mapped to chromosome 12q13 in a maximum interval of 6 cM between loci D12S1629 and D12S312. Using linkage analysis in 12 triple A families, mostly originating from North Africa, we confirm that the disease locus maps to the 12q13 region (Z max = 10.89 at Θ = 0 for D12S1604) and suggest that triple A is a genetically homogeneous disorder. Recombination events as well as homozygosity for polymorphic markers enabled us to reduce the genetic interval to a 3.9 cM region. Moreover, total linkage disequilibrium was found at the D12S1604 locus between a rare allele and the mutant chromosomes in North African patients. Analysis of markers at five contiguous loci showed that most of the triple A chromosomes are derived from a single founder chromosome. As all markers are located in a 0 cM genetic interval and only allele 5 at the D12S1604 locus was conserved in mutant chromosomes, we speculate that the triple A mutation is due to an ancient Arabian founder effect that occurred before migration to North Africa. Since we also found linkage disequilibrium at D12S1604 in two patients from Southern Europe (France and Spain), the founder effect might well extend to other Mediterranean countries. Taking advantage of a YAC contig encompassing the triple A minimal physical region, the triple A gene was mapped to a 1.7 Mb DNA fragment accessible to gene cloning. European Journal of Human Genetics (2000) 8, 613-620.

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Section: Discussionmentioning

confidence: 99%

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

et al. 2000

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“…This delayed diagnosis must emphasize the importance of careful physician assessment of adrenal function in patients with alacrima and achalasia symptoms (28). Achalasia occurs in about 75% of all cases; although, in one rare report, the age onset of symptoms was in 3 month-old siblings (6,7). In fact, achalasia and gastric atonia cause recurrent or chronic pulmonary disease due to aspiration.…”

Section: Discussionmentioning

confidence: 99%

“…General manifestations of this syndrome include isolated glucocorticoid failure, hypoglycemia, weakness, fatigue, anorexia, nausea, vomiting, constipation abdominal pain, diarrhea, salt craving, postural dizziness, weight loss, hypotension, hyperpigmentation, vitiligo, auricular calcification, electrolyte disturbances, anemia, eosinophilia, hypothyroidism, alacrima and achalasia (1,(5)(6)(7).…”

Section: Introductionmentioning

confidence: 99%

Allgrove’s Syndrome: Two Case Reports and Review of Literature

Zamanfar¹,

Shokri²,

Shadani³

et al. 2015

J Pediatr Rev

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Introduction: Allgrove's syndrome (AS) is a rare cause of adrenal insufficiency inherited in an autosomal recessive pattern. Usually the disease is manifested during the first decade of life with severe hypoglycaemia, which can lead to sudden death. Case Presentation: Here we described two cases of Allgrove's syndrome; the first case was an 8-year-old male admitted to hospital for evaluation of seizure and gait abnormality and the second case was a 4-year-old boy admitted for evaluation of hyperpigmentation of his skin and buccal mucosa for eight months, also we made a review of literature. Conclusions: Alacrima is considered to be the earliest clinical manifestation of Triple A syndrome and early recognition of glucocorticoid deficiency would prevent hypoglycaemic convulsions, neurological sequelae and death. A carful replacement of glucocorticoids is critical to avoid adrenal crisis and allow normal growth and development.

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“…For example, the gene for the ACTH receptor, which is responsible for FGD, has been found to be on the short arm of chromosome 18 (18p11.2), 12 but the gene for the triple A syndrome maps to the long arm of chromosome 12 (12q13). 13,14 Also, whereas mutations in the ACTH receptor gene have been found in a large proportion of patients with FGD, none has been identified in patients with the triple A syndrome. 1 These results support the conclusion that the triple A syndrome and FGD, the two recognized inherited disorders of corticotropin resistance, have different genetic etiologies.…”

Section: Discussionmentioning

confidence: 99%

Achalasia-Alacrima-Acth Insensitivity Syndrome (Triple a Syndrome) in a Saudi Family

Modebe

2000

Ann Saudi Med

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ALLGROVE (TRIPLE-A) SYNDROME IN PUERTO RICAN KINDREDS MAPS TO CHROMOSOME 12(12q13). † 630

Cited by 17 publications

References 0 publications

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

Allgrove’s Syndrome: Two Case Reports and Review of Literature

Achalasia-Alacrima-Acth Insensitivity Syndrome (Triple a Syndrome) in a Saudi Family

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