Shima Dehdahsi

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian et autres

Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspected NMDs over 11 years to highlight gene involvement and mutational patterns. Patients …

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Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger Sequencing

Parnian Alagha, Negar Molaei, Maryam Beheshtian, Fatemeh Ahangari et autres

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Genetic spectrum among Iranian individuals with neuromuscular disorders using Next-Generation Sequencing and multiple ligation-dependent probe amplification methods: An 11-year overview

Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian et autres

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P251: New insights into the genetic landscape of DMD gene mutations in Iran and the applicability of exon skipping therapies

Ali Khanbazi, Farzane Zare Ashrafi, Masoumeh Akbari Kelishomi, Raziye Rezvani Rezvandeh et autres

The X-linked DMD gene (MIM 300377) is the largest known human gene encompassing 79 exons and encodes dystrophin, a protein that anchors the cytoskeleton to the plasma membrane. Pathogenic variants in the DMD gene cause Duchene muscular dystrophy (DMD) and Becker muscular …

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P279: Application of next-generation sequencing in the diagnosis of inherited metabolic disorders in Iran: An 11-year overview

Parnian Alagha, Negar Molaei, Maryam Beheshtian, Fatemeh Ahangari et autres

The most common test ordered in individuals with diagnosis after 2 tests was exome (N=12), with diagnosis after 3 tests was Noonan/RASopathy panel (N=12), with diagnosis after 4 tests was exome (N=1).The individual who was diagnosed after 9 tests was diagnosed by …

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P159: Gene and mutation spectrum among Iranian individuals with neuromuscular disorders: An 11-year consolidated overview*

Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian et autres

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Sensory neuropathy in patients with Pompe disease: a case series in Iran

Marzieh Babaee, Shima Dehdahsi, Hanns Lochmüller, Mohamad Hassan Bahrami et autres

Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen …

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First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants

Azadeh Reshadmanesh, Shima Dehdahsi, Fatemeh Ahangari, Kimia Kahrizi et autres

Here, we report a case with concomitant variants: a novel homozygous HERC1 gene variant and a novel heterozygous PMP22 duplication. The 2-year-old male presented with seizures, developmental delay, macrocephaly, hypotonia, unilateral hypertrophy, thoracic scoliosis, normal brain MRI, and elevated homocysteine level which …

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee et autres

Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported a high diagnostic yield of up …

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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders

Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee et autres

Next Generation Sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported a high diagnostic yield of …

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Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature

Parvaneh Karimzadeh, Hossein Najmabadi, Hanns Lochmüller, Marzieh Babaee et autres

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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

Niloofar Bazazzadegan, Raheleh Vazehan, Mahsa Fadaee, Zohreh Fattahi et autres

Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important especially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is prevalent. Techniques such as next-generation sequencing, a comprehensive genetic test using targeted …

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