Sonia Nouira

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OBJECTIVE The aim of the present study was to investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism is associated with diabetic nephropathy and type 2 diabetes in the Tunisian population. DESIGN A case-control study was conducted among 141 unrelated type 2 diabetic patients with (90 patients) or without(More)
Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a(More)
Nizar Ben Halim & Nissaf Ben Alaya Bouafif & Lilia Romdhane & Rym Kefi Ben Atig & Ibtissem Chouchane & Yosra Bouyacoub & Imen Arfa & Wafa Cherif & Sonia Nouira & Faten Talmoudi & Khaled Lasram & Sana Hsouna & Welid Ghazouani & Hela Azaiez & Leila El Matri & Abdelmajid Abid & Neji Tebib & Marie-Françoise Ben Dridi & Salem Kachboura & Ahlem Amouri & Mourad(More)
BACKGROUND The genes encoding renin-angiotensin system (RAS) components are potent candidate genes in both hypertension and diabetes namely ACE encoding the angiotensin converting enzyme and AGT encoding angiotensinogen. It has been suggested that the insertion/deletion (I/D) polymorphism in intron 16 of ACE gene is associated with ACE levels, and M235T(More)
BACKGROUND Atrial septal defect (ASD) is an autosomal dominant disease characterized by left-to-right shunting and increased right ventricular output. Approximately 5-10% of congenital heart diseases (CHD) are due to ASD, which is one of the most frequent CHD found in adults. The gene responsible for ASD was mapped to chromosome 5q35 encoding the(More)
BACKGROUND Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with sensorineural hearing loss. METHODS Twenty-two Tunisian(More)
Microspherophakia seems to be the most specific feature of the Weill-Marchesani Syndrome, which could be due to mutations within the ADAMTS10 gene. As the locus responsible for isolated microspherophakia is still unknown, because the reported cases are rare, we checked whether the ADAMTS10 gene is involved in isolated microspherophakia in a Tunisian family.(More)
We report the identification of two novel polymorphisms in the PRKAG2 gene and preliminary association study between 5'-UTR and exon 1 polymorphisms with susceptibility to type 2 diabetes. No association with type 2 diabetes was identified. However, one of these newly identified polymorphisms (p.Ser20Ile) is likely associated with cardiac disease.
Xeroderma pigmentosum (XP, OMIM 278700-278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven complementation groups of XP (XPA to XPG) and XPV. Among them, the XP group C (XP-C) is the most prevalent type in Western Europe and in the United States. We report here on the clinical and genetic(More)