Association of a novel homozygous mutation in the <i>HMGCS2</i> gene with an HMGCSD in an Iranian patient

Heidari, Masoud; Soleyman-Nejad, Morteza; Isazadeh, Alireza; Shapouri, Javad; Taskhiri, Mohammad Hossein; Ahangari, Roghayyeh; Mohamadi, Ali Reza; Ebrahimi, Masoumeh; Karimi, Hadi; Bolhassani, Manzar; Karimi, Zahra; Heidari, Mansour

doi:10.1002/mgg3.1507

Cited by 2 publications

(2 citation statements)

References 21 publications

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“…Then, the PCR products were sequenced on an ABI 3130 automated sequencer (Applied Bio systems, Forster City, CA, USA). Sequence data searches were performed in non-redundant nucleic and protein databases BLAST ( http://www.ncbi.nlm.nih.gov/BLAST ) [ 10 ].…”

Section: Methodsmentioning

confidence: 99%

Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing

Heidari

Gharshasbi

Isazadeh

et al. 2021

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Background:: Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the PKHD1 gene on chromosome 6 (6p12), a large gene spanning 470 kb of genomic DNA. Objective: The aim of the present study was to report newly identified mutations in the PKHD1 gene in two Iranian families with PKD. Materials and Methods: Genetic alterations of a 3-month-old boy and a 27-year-old girl with PKD were evaluated using whole-exome sequencing. The PCR direct sequencing was performed to analyse the co-segregation of the variants with the disease in the family. Finally, the molecular function of the identified novel mutations was evaluated by in silico study. Results: In the 3 month-old boy, a novel homozygous frameshift mutation was detected in the PKHD1 gene, which can cause PKD. Moreover, we identified three novel heterozygous missense mutations in ATIC, VPS13B, and TP53RK genes. In the 27-year-old woman, with two recurrent abortions history and two infant mortalities at early weeks due to metabolic and/or renal disease, we detected a novel missense mutation on PKHD1 gene and a novel mutation in ETFDH gene. Conclusion: In general, we have identified two novel mutations in the PKHD1 gene. These molecular findings can help accurately correlate genotype and phenotype in families with such disease in order to reduce patient births through preoperative genetic diagnosis or better management of disorders.

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Section: Methodsmentioning

confidence: 99%

Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing

Heidari

Gharshasbi

Isazadeh

et al. 2021

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“…Subsequently, the captured library, representing the exonic content of the genome, was subjected to 2 × 150 paired-end sequencing using the NovaSeq 6000 Sequencer (Illumina, San Diego, California, USA). 4 The utilization of paired-end sequencing enhances the accuracy and completeness of the data by providing sequencing reads from both ends of the DNA fragments, thereby enabling a more comprehensive analysis of genetic variations, including insertions, deletions, and structural rearrangements.…”

Section: Case Reportmentioning

confidence: 99%

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII

Ebrahimi,

Bolhassani,

Zarei

et al. 2024

Arch Iran Med

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Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 2 publications

References 21 publications

Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing

Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII

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