Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly

Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss

Mitochondrion ◽

10.1016/j.mito.2018.08.006 ◽

2019 ◽

Vol 46 ◽

pp. 321-325 ◽

Cited By ~ 1

Author(s):

Somayeh Khatami ◽

Hassan Rokni-Zadeh ◽

Neda Mohsen-Pour ◽

Alireza Biglari ◽

Majid Changi-Ashtiani ◽

...

Keyword(s):

Hearing Loss ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Whole Exome ◽

Iranian Family ◽

Syndromic Hearing Loss

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Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome

Gene ◽

10.1016/j.gene.2019.144228 ◽

2020 ◽

Vol 727 ◽

pp. 144228 ◽

Cited By ~ 2

Author(s):

Shahram Torkamandi ◽

Somaye Rezaei ◽

Reza Mirfakhraei ◽

Masomeh Askari ◽

Samira Piltan ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Alström Syndrome ◽

Whole Exome ◽

Iranian Family ◽

Alstrom Syndrome

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Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family

Cardiology in the Young ◽

10.1017/s1047951121004455 ◽

2021 ◽

pp. 1-6

Author(s):

Mohammad Mahdavi ◽

Neda Mohsen-Pour ◽

Majid Maleki ◽

Mahshid Hesami ◽

Niloofar Naderi ◽

...

Keyword(s):

Dilated Cardiomyopathy ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Molecular Diagnostic ◽

Metabolic Parameter ◽

Compound Heterozygous ◽

Formidable Challenge ◽

Whole Exome ◽

Iranian Family ◽

Compound Heterozygous Variants

Abstract Background: Salih myopathy, characterised by both congenital myopathy and fatal dilated cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles. TTN has been identified as the main cause of this myopathy, the enormous size of this gene poses a formidable challenge to molecular genetic diagnostics. Method: In the present study, whole-exome sequencing, cardiac MRI, and metabolic parameter assessment were performed to investigate the genetic causes of Salih myopathy in a consanguineous Iranian family who presented with titinopathy involving both skeletal and heart muscles in an autosomal recessive inheritance pattern. Results: Two missense variants of TTN gene (NM_001267550.2), namely c.61280A>C (p. Gln20427Pro) and c.54970G>A (p. Gly18324Ser), were detected and segregations were confirmed by polymerase chain reaction-based Sanger sequencing. Conclusions: The compound heterozygous variants, c.61280A>C, (p. Gln20427Pro) and c.54970G>A, (p. Gly18324Ser) in the TTN gene appear to be the cause of Salih myopathy and dilated cardiomyopathy in the family presented. Whole-exome sequencing is an effective molecular diagnostic tool to identify the causative genetic variants of large genes such as TTN.

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Whole Exome Sequencing Reveals A Mutation in ELP2 Gene in Iranian Family Suffering from Autosomal Recessive Mental Retardation

Journal of Molecular and Genetic Medicine ◽

10.4172/1747-0862.1000346 ◽

2018 ◽

Vol 12 (2) ◽

Author(s):

Alizadeh N ◽

Omran SP ◽

Birgani MT ◽

Mohammadiasl J ◽

Hajjari M

Keyword(s):

Mental Retardation ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autosomal Recessive ◽

Whole Exome ◽

Iranian Family

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Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Molecular Syndromology ◽

10.1159/000506530 ◽

2020 ◽

Vol 11 (2) ◽

pp. 62-72

Author(s):

Saeed Farajzadeh Valilou ◽

Afagh Alavi ◽

Mahdiyeh Pashaei ◽

Saghar Ghasemi Firouzabadi ◽

Yousef Shafeghati ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Whole Exome ◽

Iranian Family

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Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies In A Consanguineous Iranian Family Is Associated With A Novel Homozygous Start Loss Variant In The PRUNE1 Gene

10.21203/rs.3.rs-789457/v1 ◽

2021 ◽

Author(s):

Mehdi Agha Gholizadeh ◽

Mina Mohammadi-Sarband ◽

Fatemeh Fardanesh ◽

Masoud Garshasbi

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Sanger Sequencing ◽

Neurodevelopmental Disorder ◽

Cerebellar Atrophy ◽

Compound Heterozygous ◽

Protein Structure Analysis ◽

Whole Exome ◽

Iranian Family ◽

Loss Variant

Abstract Background: Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations (NMIHBA) (OMIM #617481). The PRUNE1 gene encodes a member of the phosphoesterase (DHH) protein superfamily that is involved in the regulation of cell migration. To date, most of the described mutations in the PRUNE1 gene are clustered in DHH domain. Methods: We subjected 4 members (two affected and two healthy) of a consanguineous Iranian family in the study. The proband underwent whole-exome sequencing and a novel identified variant was confirmed by Sanger sequencing. Co-segregation of the detected variant with the disease in family was confirmed.Results: By whole-exome sequencing, we identified the first start loss variant, NM_021222.3:c.3G>A; p.(Met1?), in the PRUNE1 in two patients of a consanguineous Iranian family with spastic quadriplegic cerebral palsy (CP), hypotonia, developmental regression, and cerebellar atrophy. Sanger sequencing confirmed the segregation of the variant with the disease in the family. Protein structure analysis also revealed that the variant probably leads to the deletion of DHH (Asp-His-His) domain, the active site of the protein, and loss of PRUNE1 function. Conclusion: We identified a novel start loss variant, NM_021222.3:c.3G>A; p.(Met1?) in the PRUNE1 gene in two affected members as a possible cause of NMIHBA in an Iranian family. We believe that the study adds a new pathogenic variant in spectrum of mutations in the PRUNE1 gene as a cause of PRUNE1-related syndrome.

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Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38

Meta Gene ◽

10.1016/j.mgene.2021.100953 ◽

2021 ◽

pp. 100953

Author(s):

Emran Esmaeilzadeh ◽

Sahar Bayat ◽

Reza Mirfakhraie ◽

Milad Gholami

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epileptic Encephalopathy ◽

Whole Exome ◽

Iranian Family

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Whole -exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family – CORRIGENDUM

Cardiology in the Young ◽

10.1017/s1047951121004832 ◽

2021 ◽

pp. 1-1

Author(s):

Mohammad Mahdavi ◽

Neda Mohsen-Pour ◽

Majid Maleki ◽

Mahshid Hesami ◽

Niloofar Naderi ◽

...

Keyword(s):

Dilated Cardiomyopathy ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Iranian Family ◽

Compound Heterozygous Variants

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Whole Exome Sequencing Reveals Pathogenic Variants in KL and PUDP genes as the Cause of Intellectual Disability in an Iranian Family

Gene Reports ◽

10.1016/j.genrep.2021.101299 ◽

2021 ◽

pp. 101299

Author(s):

Fatemeh Gholipour ◽

Koh-Ichiro Yoshiura ◽

Mohammadali Hosseinpourfeizi ◽

Naser Elmi ◽

Shahram Teimourian ◽

...

Keyword(s):

Intellectual Disability ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Pathogenic Variants ◽

Whole Exome ◽

Iranian Family

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Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family

Iranian Biomedical Journal ◽

10.52547/ibj.25.6.441 ◽

2021 ◽

Vol 25 (6) ◽

pp. 441-446

Author(s):

Soophia Mehrjooy ◽

Roshan Nikbakht ◽

Javad Mohammadi asl ◽

Ata Ghadiri ◽

Pegah Ghandil ◽

...

Keyword(s):

Exome Sequencing ◽

Gene Mutation ◽

Whole Exome Sequencing ◽

Premature Ovarian Failure ◽

Ovarian Failure ◽

Whole Exome ◽

Iranian Family

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