The genetic basis of triple A (Allgrove) syndrome in a Greek family

Papageorgiou, L; Mimidis, Konstantinos; Katsani, Katerina R.; Fakis, Giannoulis

doi:10.1016/j.gene.2012.10.008

Cited by 17 publications

(18 citation statements)

References 19 publications

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“…To date, 90 families with affected members have been reported worldwide8). In our report, although the parents were nonconsanguineous and healthy, the patient's sister was affected.…”

Section: Discussionmentioning

confidence: 57%

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Edentulous child with Allgrove syndrome: a rare case report

2016

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Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency could have manifestations such as asthenia, it might be wrongly diagnosed as muscle fatigue. Vitamin D and calcium supplements are usually prescribed for the prevention of osteoporosis. Neurologic manifestations could be present in adults. In some individuals with this disorder, genetic examination indicates mutations in both alleles of the AAAS gene, which encodes a special 546-amino-acid protein designated ALADIN, and in chromosome 12q13. The genetic cause of the triple A syndrome in some patients who do not have an identified mutation is unknown. While very few such cases have been reported till date, one such case was presented to us as an edentulous child.

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“…To date, 90 families with affected members have been reported worldwide8). In our report, although the parents were nonconsanguineous and healthy, the patient's sister was affected.…”

Section: Discussionmentioning

confidence: 57%

“…She had dark pigmentation on her hands skin. Papageorgiou et al8) reported the genetic basis of triple-A syndrome in a Greek family. All family members (parents and her sibling) had mutation in AAA gene and the parents were affected.…”

Section: Discussionmentioning

confidence: 99%

Edentulous child with Allgrove syndrome: a rare case report

2016

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“…Allgrove syndrome may be referred to with respect to the relation between achalasia and the genes, which is an autosomal recessive disease with three signs, achalasia, alacrima, and adrenocortical insufficiency complicated by muscular atrophy and muscle weakness, and was first reported in 1978 by Allgrove et al [4] The ALADIN gene has been identified as the responsible gene [5–8]. Ehrich et al [9] reported that mild or moderate growth disorders and delayed psychomotor development are observed with this syndrome.…”

Section: Discussionmentioning

confidence: 99%

Simultaneous diagnosis of familial achalasia: report of two cases

et al. 2017

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BackgroundAchalasia is a rare disease with a morbidity of 1 in 100,000, for which the exact mechanism of pathogenesis has not been clarified due to the small total number of patients. We herein report on our experience with two cases of familial achalasia in which the involvement of genetic inheritance was suspected.Case presentationThese cases consist of a man in his thirties and his mother in her sixties. The son consulted the Department of Gastrointestinal Medicine at our institute with dysphagia, and an upper gastrointestinal endoscopy revealed a gastric submucosal tumor with a maximal diameter of approximately 50 mm. Achalasia was also strongly suspected due to the enlargement of the esophagus to the maximum transverse diameter of 55 mm by esophagography along with delayed clearance of barium. A detailed interview revealed prolonged mild dysphagia in his mother. Therefore, high-resolution manometry was carried out in both patients. As a result, peristaltic disorder was observed in the esophageal body in both the mother and son, leading to a definitive diagnosis of achalasia. For the son, total gastrectomy including the lower esophagus with Roux-en-Y reconstruction was performed. His postoperative course was uneventful, and the patient was discharged from hospital in remission on the 9th day following surgery and is currently undergoing follow-up as an outpatient.ConclusionsWe hereby report on a very rare case of familial achalasia that we experienced which may suggest a genetic element in the onset of achalasia, and reviewed the literature.

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“…After filtering by pedigree hypothesis, candidate variants were reduced from 84 to seven when using IAF. We found that MP14-001a1 and MP15-001a2 were homozygous for c.43C>A/p.Q15K variant, a known AAAS sequence variation [7]. Their mother and father were both heterozygous for this variant.…”

Section: Iaf Use Case Studymentioning

confidence: 99%

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin

et al. 2017

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ObjectiveWe built India Allele Finder, an online searchable database and command line tool, that gives researchers access to variant frequencies of Indian Telugu individuals, using publicly available fastq data from the 1000 Genomes Project. Access to appropriate population-based genomic variant annotation can accelerate the interpretation of genomic sequencing data. In particular, exome analysis of individuals of Indian descent will identify population variants not reflected in European exomes, complicating genomic analysis for such individuals.ResultsIndia Allele Finder offers improved ease-of-use to investigators seeking to identify and annotate sequencing data from Indian populations. We describe the use of India Allele Finder to identify common population variants in a disease quartet whole exome dataset, reducing the number of candidate single nucleotide variants from 84 to 7. India Allele Finder is freely available to investigators to annotate genomic sequencing data from Indian populations. Use of India Allele Finder allows efficient identification of population variants in genomic sequencing data, and is an example of a population-specific annotation tool that simplifies analysis and encourages international collaboration in genomics research.

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The genetic basis of triple A (Allgrove) syndrome in a Greek family

Cited by 17 publications

References 19 publications

Edentulous child with Allgrove syndrome: a rare case report

Edentulous child with Allgrove syndrome: a rare case report

Simultaneous diagnosis of familial achalasia: report of two cases

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin

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