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Your search keyword '"Leila Ammar-Keskes"' showing total 53 results
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53 results on '"Leila Ammar-Keskes"'

52. Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

Author

Faiza Fakhfakh, Ines Hsairi, Leila Ammar-Keskes, Marwa Kharrat, Nourhene Fendri-Kriaa, Chahnez Triki, H. Kammoun, and Hajer Doukali

Subjects
0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Tunisia, Genotype, Methyl-CpG-Binding Protein 2, Rett syndrome, Sister chromatid exchange, Chromosome 9, Biology, Polymerase Chain Reaction, MECP2, 03 medical and health sciences, 0302 clinical medicine, medicine, Rett Syndrome, Humans, Point Mutation, Child, Genetics, Gene Rearrangement, Point mutation, General Medicine, Gene rearrangement, medicine.disease, Molecular biology, 3. Good health, 030104 developmental biology, Phenotype, Child, Preschool, Mutation (genetic algorithm), Cytogenetic Analysis, Female, Neurology (clinical), Sister Chromatid Exchange, 030217 neurology & neurosurgery
Abstract

Rett syndrome (RTT) whose major cause is the mutations in the X-linked MECP2 gene is a genetic disease that affects females. We screened two RTT patients using cytogenetic studies and in silico analysis as well as molecular analysis by the direct sequencing of MECP2. The cytogenetic results showed that although patient A was karyotypically normal, patient B showed chromosomal abnormalities, including chromosomal breakage in both chromosomes 2 and 5. In addition, chromosome 9 was detected on heteromorphic pattern (9ph+). A significant increase in sister-chromatid exchange (SCE) frequency was also observed in this patient. Although both patients were karyotypically different, they share the same MeCP2 mutation (p.P152R) which was predicted to be deleterious. To our knowledge, we describe the first association between MECP2 mutation, chromosomal abnormalities and high SCE frequency, which further validates the importance of the thorough chromosomal and molecular analyses that should be performed on the suspected RTT cases.

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53. Two novel mutations in COII and tRNAHis mitochondrial genes in asthenozoospermic infertiles men.

Author

Siwar, Baklouti-Gargouri, Myriam, Ghorbel, Afif, Ben Mahmoud, Emna, Mkaouar-Rebai, Nozha, Chakroun, Afifa, Sellami, Faiza, Fakhfakh, and Leila, Ammar-Keskes

Subjects
*GENETIC mutation, *CYTOCHROME oxidase, *TRANSFER RNA, *MALE infertility, *MITOCHONDRIAL DNA, *NUCLEOTIDE sequencing
Abstract

In this study we performed a systematic sequence analysis of 7 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, cytochrome b and tRNAHis) in 64 infertile men suffering from asthenospermia (n = 31) in comparison to normospermic infertile men (n = 33) from Tunisian population. A total of 92 nucleotide substitutions in sperm mitochondrial DNA were found; 88 of them were previously identified and reported in the human mitochondrial DNA database (www.mitomap.org) and 4 were novel. We also detected in 4 asthenospermic patients a double novels mutations, the first was found in COXII gene (m.8021 G/A) that was absent in normospermic infertile men. This mutation substituting the Isoleucine at position 146 to Valine in a conserved amino acid in the transmembrane functional domain of the protein. And the second was detected in the tRNAHis gene (m.12187C>A) this mutation was found in homoplasmic state and was absent in normospermic patients. It was conserved throughout evolution and affects a wobble adenine in the T-loop region at the 54 codon of mitochondrial tRNAHis. [ABSTRACT FROM AUTHOR]

Published
2014
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