Narges Medical Genetics and Prenatal Diagnosis Laboratory

Ahvāz, Iran

Narges Medical Genetics and Prenatal Diagnosis Laboratory

Ahvāz, Iran
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Hamid M.,Pasteur Institute of Iran | Hamid M.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | Nejad L.D.,Pasteur Institute of Iran | Shariati G.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | And 5 more authors.
Iranian Biomedical Journal | Year: 2017

Background: β-thalassemia is one of the most widespread diseases in the world, including Iran. In this study, we reported, for the first time, a 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out according to the standard methods. Genomic DNA was obtained from peripheral blood cells by salting out procedures. β-globin gene amplification, multiplex ligation-dependent probe amplification (MLPA), and DNA sequencing were performed. Results: The PCR followed by sequencing and MLPA test of the β-globin gene confirmed the presence of a 290-bp deletion in the heterozygous form, along with -88C>A mutation. All the individuals had elevated hemoglobin A2 and normal fetal hemoglobin levels. Conclusions: This mutation causes β°-thalassemia and can be highly useful for prenatal diagnosis in compound heterozygous condition with different β-globin gene mutations. © 2017, Pasteur Institute of Iran. All rights reserved.


Osborn D.P.S.,St George's, University of London | Pond H.L.,George Washington University | Mazaheri N.,Shahid Chamran University | Mazaheri N.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | And 23 more authors.
American Journal of Human Genetics | Year: 2017

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome. Whole-exome sequencing revealed homozygous missense and compound heterozygous mutations in INPP5K in the affected members of each family. INPP5K encodes the inositol polyphosphate-5-phosphatase K, also known as SKIP (skeletal muscle and kidney enriched inositol phosphatase), which is highly expressed in the brain and muscle. INPP5K localizes to both the endoplasmic reticulum and to actin ruffles in the cytoplasm. It has been shown to regulate myoblast differentiation and has also been implicated in protein processing through its interaction with the ER chaperone HSPA5/BiP. We show that morpholino-mediated inpp5k loss of function in the zebrafish results in shortened body axis, microphthalmia with disorganized lens, microcephaly, reduced touch-evoked motility, and highly disorganized myofibers. Altogether these data demonstrate that mutations in INPP5K cause a congenital muscular dystrophy syndrome with short stature, cataracts, and intellectual disability. © 2017 The Author(s).


Keikhaei B.,Ahvaz Jundishapur University of Medical Sciences | Shariati G.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | Abolghasemi H.,Shahid Beheshti University of Medical Sciences
Iranian Journal of Blood and Cancer | Year: 2015

Background: Beta thalassemia gene mutations are among common mutations in southwest Iran. However, Hemoglobin E (Hb E) and Hb E/β⁰ thalassemia account for a small number of hemoglobinopathies in Iran. This is the first study to directly address the existence of Hb E and consequently Hb E/β⁰ thalassemia in southwest Iran. Methods: This retrospective study discovered seven cases of Hb E/β⁰ thalassemia among 700 patients with hemoglobinopathies referring to Health Institute and Research Center for Thalassemia and Hemoglobinopathy in southwest Iran. EDTA and clot blood samples were obtained and analyzed for complete blood counts, hemoglobin electrophoresis, LDH, bilirubin, ferritin and amplification refractory mutation system (ARMS) technique by polymerase chain reaction (PCR) and DNA sequencing. Results: Out of 700 cases, seven patients with Hb E/β⁰ thalassemia were detected (1%). Four patients were classified into non-transfused dependent Hb E/β⁰ thalassemia and three cases were classified into transfusion dependent Hb E/β⁰ thalassemia group. Alpha thalassemia (deletional and non-deletional) and XmnI gene polymorphism were not found in either of cases. Conclusion: Hb E/β Thalassemia is not a common hemoglobin disorder in southwest Iran. Phenotype heterogeneity is common in Iranian patients from a mild asymptomatic anemia to severe anemia that can be presented in the early years of life. This was the first report of Hb E/β⁰ thalassemia from Iran. © 2015, Iranian Pediatric Hematology and Oncology Society. All rights reserved.


Hamid M.,Pasteur Institute of Iran | Hamid M.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | Shariati G.,Narges Medical Genetics and Prenatal Diagnosis Laboratory | Shariati G.,Ahvaz Jundishapur University of Medical Sciences | And 5 more authors.
Hemoglobin | Year: 2013

We report a novel mutation on the α2-globin gene, codon 83 (T>G), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that we named Hb Ahvaz. This mutation was detected by cellulose acetate electrophoresis and characterized by molecular studies. Hb Ahvaz does not seem to be responsible for hematological abnormalities in the carriers, but with α0-thalassemia (α0-thal) defects, might induce severe clinical symptoms. Copyright © Informa Healthcare USA, Inc.

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