A5084641128- Genomic variations and chromosomal abnormalities
- Sexual Differentiation and Disorders
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Connexins and lens biology
- Prenatal Screening and Diagnostics
- Genetic and Kidney Cyst Diseases
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- Hormonal and reproductive studies
- Genomics and Rare Diseases
- Sperm and Testicular Function
- Machine Learning in Bioinformatics
- Neurogenetic and Muscular Disorders Research
- Retinal Development and Disorders
- Parvovirus B19 Infection Studies
- Genomics and Chromatin Dynamics
- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- Cellular transport and secretion
- Congenital heart defects research
- RNA Research and Splicing
- Connective tissue disorders research
- Reproductive Biology and Fertility
Hôpital Charles-Nicolle
2013-2024
Tunis El Manar University
2021-2022
Faculté de médecine de Tunis
2004-2022
Tunis University
2007-2021
To map the locus and identify gene causing autosomal recessive congenital cataracts in a large consanguineous Tunisian family.DNA was extracted from blood samples family with an recessive, congenital, total white cataract. A genome-wide scan performed microsatellite markers. All exons splice sites of HSF4 were sequenced all members control individuals. RT-PCR used to detect different transcripts human lens. The cloned TA cloning vector sequenced.Two-point linkage analyses showed markers on...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase (CYP21) gene. To determine mutational spectrum Tunisian CAH population, CYP21 active gene was analyzed 51 unrelated patients using our cascade strategy (digestion by restriction enzyme, sequencing). All had classical form deficiency. Mutations were detected over 94% chromosomes examined. The most frequent mutation population found be Q318X, with large...
To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine presence of triallelism eight identified BBS genes.DNA samples were collected from 19 consanguineous families with BBS. Genome-wide scans performed microsatellite markers 12 families, two-point linkage analyses performed. Direct sequencing was used to screen patients for mutations all genes.Mutations genes nine families. In addition, a large family (57004) showed BBS7 locus, although no mutation identified. Five...
Bardet–Biedl syndrome ( BBS , OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism. The aim of this study to provide comprehensive clinical molecular analysis cohort 11 Tunisian consanguineous families in order give insight into spectrum the genotype–phenotype correlations. Molecular using combined sequence capture high‐throughput sequencing 30 ciliopathies genes revealed...
Steroid 11β-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, resulting in virilization, glucocorticoid and hypertension. The enzyme encoded by CYP11B1 gene mutations this are responsible for disease. aim study was to characterize determine their frequencies a cohort Tunisian patients. molecular genetic analysis performed direct nucleotide sequencing 15 unrelated patients suffering from classical deficiency. Only two were detected homozygous state all...
Earlier we had reported a large prevalence of the Q318X mutation in CYP21A2 gene with 35.3% Tunisian patients classical form 21-hydroxylase deficiency, contrast 0.5% to 13.8% as described other populations. Here present analysis healthy population. We screened 136 individuals by polymerase chain reaction (PCR)/random fragment length polymorphism method, which was confirmed direct sequencing. Surprisingly, 17 carriers were identified, for carrier frequency 12.5% (95% confidence interval:...
Abstract Background Genetic cardiac diseases are the main trigger of sudden death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is most prevalent and accounts for 0.5 to 1% SCD cases per year. Methods Herein, we report a family with marked history focusing on one adult case pediatric HCM. Results For deceased adult, postmortem whole‐exome sequencing (WES) revealed missense variant ACTN2 gene: c.355G > A; p.(Ala119Thr) confirming mixed hypertrophic/dilated phenotype detected...
Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time get worse, especially when the encephalopathy pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile syndromes. Herein, we investigate genetics JME in consanguineous family analyzing copy number variations detected using 700 K SNP arrays. We identified 254-kb deletion 22q11.2 region, including only...
We report on a case of de novo trisomy 20p in 5-year-old boy. The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. Standard karyotype FISH techniques allowed the characterization chromosome rearrangement showing duplication spanning almost whole short arm 20. Therefore interpreted as 46,XY,der(20)(pter --> q13.3::p11.2 pter). Molecular studies...
The aim of this study is to investigate the genetic basis autosomal recessive congenital cataract and intellectual disability phenotype in a consanguineous Tunisian family. whole genome scan studied family was performed with single nucleotide polymorphisms ( SNPs ). resulted runs homozygosity (ROH) were analyzed through integrated Systems Tool for Eye gene discovery (iSyTE) order prioritize candidate genes associated cataract. Selected amplified sequenced. Bioinformatic analysis conducted...
Purpose.: The object of this study is to identify the underlying genetic defect in a consanguineous Tunisian family affected with autosomal recessive congenital cataract associated mental retardation and microcephaly. Methods.: A whole-genome scan was performed polymorphic microsatellites axiom data for screened members. Homozygous regions were analyzed integrated Systems Tool Eye gene Discovery (iSyTE), candidate genes lens-enriched expression that potentially cataract. Then we mutations by...
Abstract We identified in a large Tunisian pedigree novel UBE3A frameshift mutation exon 16 coding region, and we expect that the resulting truncated protein our patients is non‐functional since implies catalytic region of enzyme. The family includes 14 affected born from four sisters. This was found all surviving individuals their mothers pointing out importance genetic counseling possibility Angelman syndrome (AS). All had severe mental retardation with epilepsy microcephaly. Minor...