A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

Heidari, Masoud; Soleyman-Neja, Morteza d; Taskhiri, Mohammad Hossein; Isazadeh, Alireza; Bolhassani, Manzar; Shahpouri, Javad; Heidari, Mansour; Sadighi, Nahid

doi:10.18502/acta.v57i8.2429

Cited by 2 publications

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“…All variants with autosomal recessive, dominant, and X‐linked inheritance models were assumed for the analysis. The mutations passed these filtering were considered as pathogenic 18 …”

Section: Methodsmentioning

confidence: 99%

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

Khorrami

Goleij

Karamad

et al. 2021

Clinical Laboratory Analysis

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Background Merosin‐deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense mutations in LAMA2 gene in compound heterozygous status in an Iranian patient with MDC1A using whole‐exome sequencing (WES). Methods In the present study, we evaluated genetic alterations in an Iranian 35‐month‐old boy with MDC1A and his healthy family using WES method. The identified mutations further confirmed by Sanger sequencing method. Finally, in silico analysis was conducted to further evaluation of molecular function of the identified genetic variants. Results We identified two potentially pathogenic missense mutations in compound heterozygous state (c.7681G>A p.Gly2561Ser and c.4840A>G p.Asn1614Asp) in LAMA2 gene as contributing to the MDC1A phenotype. The healthy parents of our proband are single heterozygous for identified mutations. These variants were found to be pathogenic by in silico analysis. Conclusions In general, we successfully identified LAMA2 gene mutations in an Iranian patient with MDC1A using WES. The identified mutations in LAMA2 gene can be useful in genetic counseling, prenatal diagnosis, and predicting prognosis of MDC1A.

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“…All variants with autosomal recessive, dominant, and X‐linked inheritance models were assumed for the analysis. The mutations passed these filtering were considered as pathogenic 18 …”

Section: Methodsmentioning

confidence: 99%

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

Khorrami

Goleij

Karamad

et al. 2021

Clinical Laboratory Analysis

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“…The Sanger sequencing was performed using ABI 3130 automated sequencer (Applied Biosystems, Forster City, CA, USA). The sequencing data were searched in non‐redundant nucleic and protein databases BLAST (http://www.ncbi.nlm.nih.gov/BLAST) (Ahmadi et al, 2018; Heidari, Soleyman‐Neja, et al, 2019).…”

Section: Methodsmentioning

confidence: 99%

“…The pedigree analysis of a patient with HMGCS2 gene mutation. The arrow indicates the proband were searched in non-redundant nucleic and protein databases BLAST (http://www.ncbi.nlm.nih.gov/BLAST) (Ahmadi et al, 2018;Heidari, Soleyman-Neja, et al, 2019).…”

Section: F I G U R Ementioning

confidence: 99%

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

Heidari

Soleyman-Nejad²,

Isazadeh

et al. 2020

Molec Gen & Gen Med

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A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

Cited by 2 publications

References 0 publications

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

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

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