Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia

2019 ◽  
Vol 21 (8) ◽  
Author(s):  
Hossein Ansari ◽  
Javad Mohammadi‐Asl ◽  
Mohammadreza Hajjari ◽  
Maryam Tahmasebi‐Birgani ◽  
Abolghasem Kollaee ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Iranian Family ◽  
Comp Gene

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

Mitochondrion ◽  
2019 ◽  
Vol 46 ◽  
pp. 321-325 ◽  
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

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

Gene ◽  
2020 ◽  
Vol 727 ◽  
pp. 144228 ◽  
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

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

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.

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

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

scholarly journals Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing

2019 ◽  
Vol 39 (3) ◽  
Author(s):  
Saber Imani ◽  
Jingliang Cheng ◽  
Jiewen Fu ◽  
Abdolkarim Mobasher-Jannat ◽  
Chunli Wei ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Fundus Photography ◽  
Biochemical Tests ◽  
Bardet Biedl Syndrome ◽  
Splicing Variant ◽  
Related Family ◽  
Iranian Family ◽  
Visual Acuity Testing ◽  
First Time ◽  
Splicing Site

AbstractBardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T>C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T>C in the BBS5 gene for the first time in the Iranian family.

scholarly journals 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

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.

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

2021 ◽  
Author(s):  
Sahar sadat Sedighzadeh ◽  
Alireza Sedaghat ◽  
Mina Zamani ◽  
Tahere Seifi ◽  
Gholamreza Shariati ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Iranian Family
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