Publications by authors named "Ali H Bereshneh"
The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and monozygotic twins.
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- The study investigates mitochondrial leukodystrophies (MLs) in a cohort of 41 pediatric patients, revealing a strong link between mitochondrial respiratory chain impairments and genetic mutations.
- Whole exome sequencing was utilized to identify mutations, resulting in the discovery of 39 homozygous variants and five novel variants potentially contributing to the disease's development.
- Common symptoms included neurological regression, and differences in MRI findings were noted between patients affected by oxidative phosphorylation issues and those with mtDNA maintenance problems.
Article Synopsis
- Leukodystrophies (LDs) are neurological disorders affecting the white matter of the brain, and this study focuses on creating an Iranian LD Registry to analyze the clinical and genetic data of Persian patients.
- From 680 patients registered between 2016-2019, 342 underwent diagnostic evaluations, with 245 ultimately diagnosed—24.5% in a hypomyelinating LD group and the rest in other categories.
- Genetic testing revealed causal variants in 228 patients, with whole-exome sequencing (WES) being more effective (60.7% diagnostic rate) than single gene testing; lysosomal disorders were the most prevalent diagnoses.
Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in the pediatric population. The manifestations of this disease include progressive muscle weakness, gait dysfunction, and motor impairment, leading to a loss of ambulation by the age of 13 years. Molecular diagnosis is the standard diagnostic tool for DMD.
View Article and Find Full Text PDFBackground: Desbuquois dysplasia type 2 (DBQD2) is an infrequent dysplasia with a wide range of symptoms, including facial deformities, growth retardation and short long bones. It is an autosomal recessive disorder caused by mutations in the XYLT1 gene that encodes xylosyltransferase-1.
Case Presentation: We studied an aborted fetus from Iranian non-consanguineous parents who was therapeutically aborted at 19 weeks of gestation.
Introduction: Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce.
View Article and Find Full Text PDFAl-Raqad syndrome (ARS) is a rare autosomal recessive congenital disorder, associated mainly with developmental delay, and intellectual disability. This syndrome is caused by mutations in DCPS, encoding scavenger mRNA decapping enzyme, which plays a role in the 3-prime-end mRNA decay pathway. Whole-exome sequencing was performed on an offspring of a consanguineous family presenting with developmental delay, intellectual disability, growth retardation, mild craniofacial abnormalities, cerebral and cerebellar atrophy, and white matter diffuse hypomyelination pattern.
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