Publications by authors named "Masoume Amini"
Article Synopsis
- Muscular dystrophy (MD) is a genetic disorder characterized by muscle weakness, with a higher prevalence in regions like Iran due to common consanguineous marriages.
- The study focused on three unrelated families with undiagnosed cases of MD and used whole exome sequencing (WES) to identify mutations in genes associated with collagen type VI.
- The findings revealed specific mutations in the COL6A genes for each family, highlighting WES as a useful tool for diagnosing unidentified MD cases and expanding knowledge about its genetic causes in Iran.
Article Synopsis
- Hemoglobin Ernz (Hb Ernz) is a rare genetic variant in the β-globin gene, caused by a specific amino acid change and classified as uncertain by experts due to a lack of data.
- Over a span of more than 20 years of screening, eight cases of Hb Ernz were identified among individuals likely carrying thalassemia traits.
- The study suggests that the hematological issues observed in Hb Ernz individuals are more likely linked to mutations in the α-globin gene, advocating for a reclassification of Hb Ernz as a benign variant.
Background: Preimplantation genetic diagnosis (PGD) has been developed to detect genetic disorders before pregnancy which is usually done on blastomeres biopsied from 8-cell stage embryos obtained from in vitro fertilization method (IVF). Here we report molecular PGD results for diagnosing of beta thalassemia (beta-thal) which are usually accompanied with evaluating chromosomal aneuploidies, HLA typing and sex selection.
Methods: In this study, haplotype analysis was performed using short tandem repeats (STRs) in a multiplex nested PCR and the causative mutation was detected by Sanger sequencing.
Congenital afibrinogenemia is a rare autosomal recessive disorder that is caused by defects in the fibrinogen. Fibrinogen is a hexameric glycoprotein made of two pairs of three homologous polypeptide chains including Aα, Bβ, and γ that are encoded by three genes named FGA, FGB, and FGG. We aim to study four Iranian families who were referred to our lab for molecular diagnosis of afibrinogenemia.
View Article and Find Full Text PDFSpinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized by loss of motor neurons, muscle weakness, hypotonia and muscle atrophy, with different modes of inheritance; however, the survival motor neuron 1 (SMN1) gene is predominantly involved. The aims of the current study were to clarify the genetic basis of SMA and determine the mutation spectrum of SMN1 and other associated genes, in order to provide molecular information for more accurate diagnosis and future prospects for treatment. We performed a comprehensive analysis of 5q SMA in 1765 individuals including 528 patients from 432 unrelated families with at least one child with suspected clinical presentation of SMA.
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