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"Boualla, Lamia"
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Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
by
Sefiani, Abdelaziz
,
Spiegelman, Dan
,
Elalaoui, Siham C.
in
Correction
,
Internal Medicine
,
Medicine
2018
After publication of the original article [1] it was brought to our attention that author Bouchra Ouled Amar Bencheikh was incorrectly included as Bouchra Oulad Amar Bencheikh.After publication of the original article [1] it was brought to our attention that author Bouchra Ouled Amar Bencheikh was incorrectly included as Bouchra Oulad Amar Bencheikh.
Journal Article
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
by
Sefiani, Abdelaziz
,
Spiegelman, Dan
,
Elalaoui, Siham C.
in
Analysis
,
Case Report
,
Connatal Pelizaeus-Merzbacher disease
2018
Background
Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong genetic contribution and various mode of inheritance. X-linked epilepsy usually manifests as part of a syndrome or epileptic encephalopathy. The variability of clinical manifestations of X-linked epilepsy may be attributed to several factors including the causal genetic mutation, making diagnosis, genetic counseling and treatment decisions difficult. We report the description of a Moroccan family referred to our genetic department with X-linked epileptic seizures as the only initial diagnosis.
Case presentation
Knowing the new contribution of Next-Generation Sequencing (NGS) for clinical investigation, and given the heterogeneity of this group of disorders we performed a Whole-Exome Sequencing (WES) analysis and co-segregation study in several members of this large family. We detected a novel pathogenic
PLP1
missense mutation c.251C > A (p.Ala84Asp) allowing us to make a diagnosis of Pelizaeus-Merzbacher Disease for this family.
Conclusion
This report extends the spectrum of
PLP1
mutations and highlights the diagnostic utility of NGS to investigate this group of heterogeneous disorders.
Journal Article
Associations between clinical characteristics and angiotensin-converting enzyme gene insertion / deletion polymorphism in Moroccan population with type-2 diabetic nephropathy
by
Znibir, Amal
,
Sufyani, Abd al-Aziz
,
Mansuri, Maria
in
Analysis
,
Angiotensin converting enzyme
,
Care and treatment
2017
Diabetic nephropathy (DN) is one of the severe complications of Type-2 diabetes
mellitus (T2DM) and a major cause of end-stage renal disease in these patients. Results from
published studies on the relationship between angiotensin-converting enzyme (ACE) insertion/
deletion (I/D) gene polymorphism and patients with DN are still conflicting. We compared the
clinical characteristics and the genotype frequencies of ACE polymorphism in 130 T2DM
Moroccan patients with DN and 85 T2DM Moroccan patients without DN (controls) using
specific primers in a polymerase chain reaction. The degenerative complications of diabetes were
significantly higher in the group with nephropathy. The distribution of the I/D genotypes was in
Hardy–Weinberg equilibrium. The D allele was the most frequent allele in the Moroccan population
in both groups studied (P = 0.68), however, there was no significant difference between the
genotypes in T2DM patients with or without DN (P = 0.78). The ACE gene I/D polymorphism
was not associated with an increased risk of DN in the Moroccan population.
Journal Article