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A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome

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Abstract

Purpose

Bardet–Biedl syndrome (BBS: OMIM 209,900) is a rare ciliopathic human genetic disorder that affects many parts of the body systems. BBS is a genetically heterogeneous disorder with a wide spectrum of clinical manifestations which makes its diagnosis and management more challenging. RetNet reports 18 genes that cause BBS and each of genes has had several known mutations. Genetic studies suggesting that serologically defined colon cancer antigen 8 (SDCCAG8) gene mutations are a major cause of BBS.

Materials and methods

In this section, we investigated the consanguineous Iranian family members with BBS. Whole-exome sequencing and Sanger sequencing, were performed to screen and confirm the suspicious pathogenic mutations. The identified mutation was investigated using bioinformatics tools to predict the effect of the mutation on protein structure.

Results

Sequential analysis identified a novel splice site mutation c.1221 + 2 T > A in the SDCCAG8 gene in BBS patients. Structure-based approaches have predicted significant structural alterations in SDCCAG8 protein.

Conclusions

This study was conducted to show the aberrant alternative splicing as one of the single splicing mutations identified can cause BBS by affecting the function of SDCCAG8 protein.

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Abbreviations

BBS:

Bardet–Biedl syndrome

SDCCAG8:

Serologically defined colon cancer antigen 8

WES:

Whole-exome sequencing

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Acknowledgements

This study has been granted by the University of Medical Sciences, Tabriz, Iran (Grant Number: 64764). We would like to thank the University of Medical Sciences Semnan, Iran for their collaboration and support. Moreover, we would like to express our sincere thanks to the family members who participated in this study, and we profoundly appreciate their collaboration in making this study possible.

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Author notes

  1. Zahra Bahmanpour and Yousef Daneshmandpour have contributed equally to this work.

Authors and Affiliations

  1. Molecular Medicine Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

    Zahra Bahmanpour, Yousef Daneshmandpour & Babak Emamalizadeh

  2. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran

    Zahra Bahmanpour, Yousef Daneshmandpour, Somayeh Kazeminasab, Soudabeh Khalil Khalili & Babak Emamalizadeh

  3. Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran

    Zahra Bahmanpour

  4. Cancer Research Center, Semnan University of Medical Sciences, Semnan, Iran

    Hossein Darvish

  5. Department of Medical Genetics, School of Medicine, Semnan University of Medical Sciences, Semnan, Iran

    Mohsen Soosanabadi & Hossein Darvish

  6. Student Research Committee, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Elham Alehabib & Marjan Chapi

Authors
  1. Zahra Bahmanpour
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  2. Yousef Daneshmandpour
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  3. Somayeh Kazeminasab
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  8. Hossein Darvish
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  9. Babak Emamalizadeh
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Correspondence to Hossein Darvish or Babak Emamalizadeh.

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Bahmanpour, Z., Daneshmandpour, Y., Kazeminasab, S. et al. A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome. Int Ophthalmol 41, 389–397 (2021). https://doi.org/10.1007/s10792-020-01588-x

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  • DOI: https://doi.org/10.1007/s10792-020-01588-x

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