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3 results on '"Elouej S"'

1. A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.

Author

Nagara M, Voskarides K, Elouej S, Zaravinos A, Riahi Z, Papagregoriou G, Kefi R, Boussetta K, Deltas C, Abdelhak S, and Tinsa F

Subjects
Acidosis, Renal Tubular physiopathology, Adult, Child, Consanguinity, DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Humans, Male, Siblings, Tunisia, Acidosis, Renal Tubular genetics, Mutation, RNA Splice Sites genetics, Vacuolar Proton-Translocating ATPases genetics
Published
2014
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2. A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.

Author

Cherif Ben Abdallah L, Lakhoua Y, Nagara M, Khiari K, Elouej S, Messaoud O, Bouyacoub Y, Romdhane L, Turki Z, Abdelhak S, and Ben Abdallah N

Subjects
Adolescent, Female, Humans, Male, Tunisia, Adrenal Insufficiency diagnosis, Adrenal Insufficiency genetics, Adrenal Insufficiency pathology, Esophageal Achalasia diagnosis, Esophageal Achalasia genetics, Esophageal Achalasia pathology, Eunuchism diagnosis, Eunuchism genetics, Eunuchism pathology, Nerve Tissue Proteins genetics, Nuclear Pore Complex Proteins genetics, Point Mutation, RNA Splice Sites
Abstract

Background/aims: The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations., Methods: Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes., Results: At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa., Conclusion: This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling., (2014 S. Karger AG, Basel)

Published
2014
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3. A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

Author

Nagara, Majdi, Voskarides, Konstantinos, Elouej, S., Zaravinos, Apostolos, Riahi, Zied, Papagregoriou, Gregory N., Kefi Ben Atig, Rym, Boussetta, Khadija, Constantinou-Deltas, Constantinos D., Abdelhak, S., Tinsa, Faten, and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Male, child, Vacuolar Proton-Translocating ATPases, Tunisia, Novel mutation, ATP6V0A4, Distal renal tubular acidosis (dRTA), Tunisian population, adult, Siblings, Donor splice site, High-Throughput Nucleotide Sequencing, acidosis, renal tubular, ATP6V0A4 protein, human, consanguinity, Mutation, Humans, genetics, RNA Splice Sites, physiopathology, dna mutational analysis
Abstract

93 859 863 Cited By :1

Published
2015

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