Mutation Spectra of the AAAS Gene in Iranian Families with Allgrove Syndrome

2011 ◽  
Vol 42 (2) ◽  
pp. 163-168 ◽  
Author(s):  
Vahid Reza Yassaee ◽  
Ziba Soltani ◽  
Bahareh Malekafzali Ardakani
Keyword(s):  
Allgrove Syndrome ◽  
Aaas Gene ◽  
Mutation Spectra

scholarly journals A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene

2012 ◽  
Vol 21 (1) ◽  
pp. 11-13 ◽  
Author(s):  
Satoru Ikemoto ◽  
Ken Sakurai ◽  
Naruo Kuwashima ◽  
Yoshihiro Saito ◽  
Ichiro Miyata ◽  
...  
Keyword(s):  
Allgrove Syndrome ◽  
Aaas Gene

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy

HORMONES ◽  
2020 ◽  
Author(s):  
Satyam Singh Jayant ◽  
Rahul Gupta ◽  
Kanhaiya Agrawal ◽  
Liza Das ◽  
Pinaki Dutta ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Rare Association ◽  
Aaas Gene Mutation ◽  
Aaas Gene

scholarly journals Allgrove syndrome and motor neuron disease

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Marcos R.G. De Freitas ◽  
Marco Orsini ◽  
Alexandra Prufer de Queiroz Campos Araújo ◽  
Luiz João Abraão Jr. ◽  
Gilberto Miranda Barbosa ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Case Reports ◽  
Symptomatic Treatment ◽  
Allgrove Syndrome ◽  
Pathogenic Variants ◽  
Aaas Gene ◽  
The Subject ◽  
Slow Evolution ◽  
Symptoms And Signs

Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it’s characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews. A few cases of Allgrove syndrome with motor neuron disease have been already described. A 25-year-old white man, at the age of four, presented slowly progressive distal amyotrophy and weakness, autonomic dysfunction, dysphagia and lack of tears. He suffered later of orthostatic hypotension and erectile dysfunction. He presented distal amytrophy in four limbs, tongue myofasiculations, alacrimia, hoarseness and dysphagia due to achalasia. The ENMG showed generalized denervation with normal conduction velocities. Genetic testing revealed 2 known pathogenic variants in the AAAS gene (c.938T>C and c.1144_1147delTCTG). Our case presented a distal spinal amyotrophy with slow evolution and symptoms and signs of AS with a mutation in AAAS gen. Some cases of motor neuron disease, as ours, may be due to AAS. Early diagnosis is extremely important for symptomatic treatment.

Two Patients with an Identical Novel Mutation in the AAAS Gene and Similar Phenotype of Triple A (Allgrove) Syndrome

2010 ◽  
Vol 118 (08) ◽  
pp. 530-536 ◽  
Author(s):  
I. Krull ◽  
M. M.-Woelfle ◽  
K. Bärlocher ◽  
K. Koehler ◽  
A. Huebner ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Allgrove Syndrome ◽  
Similar Phenotype ◽  
Aaas Gene

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

2010 ◽  
Vol 77 (3) ◽  
pp. 298-301 ◽  
Author(s):  
C Palka ◽  
R Giuliani ◽  
F Brancati ◽  
A Mohn ◽  
A Di Muzio ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Phenotypic Spectrum ◽  
Aaas Gene Mutation ◽  
Aaas Gene

scholarly journals Allgrove Syndrome in Iranian Patients and Report on a Novel Mutation in AAAS Gene

2018 ◽  
Vol 28 (1) ◽  
Author(s):  
Mahin Hashemipour ◽  
Mehdi Khorrami ◽  
Manijeh Mahdavi ◽  
Maryam Hosseindokht Khujin ◽  
Majid Kheirollahi
Keyword(s):  
Novel Mutation ◽  
Allgrove Syndrome ◽  
Aaas Gene ◽  
Iranian Patients

scholarly journals Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110310
Author(s):  
Daniel I. Weiman ◽  
Meredith K. Gillespie ◽  
Taila Hartley ◽  
Matthew Osmond ◽  
Yoko Ito ◽  
...  
Keyword(s):  
Nervous System ◽  
Case Report ◽  
Peripheral Neuropathy ◽  
Adrenocorticotropic Hormone ◽  
Clinical Symptoms ◽  
Compound Heterozygote ◽  
Triple A Syndrome ◽  
Sensorimotor Polyneuropathy ◽  
Allgrove Syndrome ◽  
Aaas Gene

Allgrove or “Triple A” syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and nature of clinical symptoms. Neurophysiological testing has also shown variability ranging from: motor neuron disease with prominent bulbar involvement, motor-predominant neuropathy, or sensorimotor polyneuropathy with axonal or mixed axonal and demyelinating features. We report an 11-year-old boy who presented with neurological symptoms of progressive spasticity and peripheral neuropathy. His neurophysiological testing confirmed a sensorimotor polyneuropathy with axonal and demyelinating features. Exome sequencing identified compound heterozygote variants in the AAAS gene. We summarize the neurophysiological findings in him and 29 other patients with Allgrove syndrome where nerve conduction study findings were available thereby providing a review of the heterogeneity in neurophysiological findings that have been reported in this rare disorder.

scholarly journals Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Haidar Bustanji ◽  
Bashar Sahar ◽  
Angela Huebner ◽  
Kamel Ajlouni ◽  
Dana Landgraf ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Delayed Puberty ◽  
Coding Region ◽  
Triple A Syndrome ◽  
Allgrove Syndrome ◽  
Indel Mutation ◽  
History Of ◽  
Aaas Gene ◽  
Glucocorticoid Deficiency

AbstractTriple A syndrome, formerly known as Allgrove syndrome, is an autosomal recessive disorder characterized clinically by adrenal insufficiency, alacrima, achalasia, and neurological abnormalities. We report a 17-year-old boy presented to the endocrine clinic with delayed puberty and a 4-year’s history of fatigue and muscle weakness. He had achalasia, alacrima, and skin and mucosal hyperpigmentation. Hormonal assessment revealed isolated glucocorticoid deficiency. Clinical diagnosis of triple A syndrome was confirmed by sequencing the entire coding region including exon-intron boundaries of the

scholarly journals Allgrove syndrome: a case report

2021 ◽  
Vol 8 (9) ◽  
pp. 1609
Author(s):  
Dipika Bhil ◽  
Guntupalli Shravya L. ◽  
Hitarth Doshi ◽  
Shivanand Harnal
Keyword(s):  
Female Child ◽  
Barium Swallow ◽  
Acth Stimulation ◽  
Allgrove Syndrome ◽  
Adrenal Deficiency ◽  
Aaas Gene ◽  
High Index Of Suspicion ◽  
Cortisone Therapy ◽  
Poor Weight Gain

Allgrove syndrome is an autosomal recessive disease which is characterized by Achalasia, Alacrimia and ACTH-resistant Adrenal deficiency with progressive neurological manifestations. Allgrove syndrome is caused due to mutations in AAAS gene, localized on chromosome 12q13. This report relates to an 8 years old female child who had complaints of vomting, fever, cough, hyperpigmentation and poor weight gain. Barium swallow, ophthalmic examination and ACTH stimulation test proves that patient has Allgrove’s syndrome. Management consisted of initiation of cortisone therapy which was successful in improving the hyper pigmentation. Patient was planned for surgical intervention for achalasia cardia on follow-up. Allgrove’s syndrome may be an under diagnosed disorder. High index of suspicion is needed when patients present with such complex symptoms. Diagnosing and timely intervention helps in reducing the morbidity and mortality.

scholarly journals Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
H. Berrani ◽  
T. Meskini ◽  
M. Zerkaoui ◽  
H. Merhni ◽  
S. Ettair ◽  
...  
Keyword(s):  
Case Report ◽  
Allgrove Syndrome ◽  
Aaas Gene ◽  
Moroccan Family
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