Diabetes and CFAP126 gene mutation; are they really linked together?

Kashan Arshad; Aamir Naseem; Syed Saddam Hussain; Noor-ul-ain Mehak; Awais Muhammad Butt; Sommayya Aftab; Anjum Saeed; Huma Arshad Cheema

doi:10.1515/jpem-2024-0192

Article

Diabetes and CFAP126 gene mutation; are they really linked together?

Kashan Arshad , Aamir Naseem , Syed Saddam Hussain , Noor-ul-ain Mehak , Awais Muhammad Butt , Sommayya Aftab , Anjum Saeed and Huma Arshad Cheema

Published/Copyright: August 19, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 10

Abstract

Objectives

We are reporting a rare case series of 2 siblings and their mother with diabetes having a CFAP126 gene mutation.

Case presentation

Two female siblings, presented with incidental hyperglycemia at the ages of 16 and 13. They had a strong family history of diabetes on the maternal side. The systemic examination was unremarkable. Sibling 1 had HbA1C of 12.3 % with insulin and C-peptide levels of 6.6 IU/L and 1.8 ng/mL, respectively. Sibling 2 had an HbA1C of 12.6 %, an insulin level of 7.3 IU/L, and a C-peptide level of 2.02 ng/mL. Anti-GAD-65 and IA2 antibodies were negative. Mother also shared similar clinical processes and exhibited comparable biochemical changes related to glucose metabolism with elevated HbA1C levels and negative autoimmune markers (anti-GAD65 and IA2 antibodies). Whole exome sequencing (WES) turned out to be negative for MODY variants but revealed a rare heterozygous mutation in the CFAP126 gene (c.310A>T p. (Lys104*) in this family including both siblings and mother. The pathogenicity prediction tool MutationTaster^® classified the mutation as disease causing. Oral glibenclamide remarkably reduced insulin requirements and improved HbA1C levels.

Conclusions

This rare genetic mutation is likely associated with diabetes and possibly a novel marker for a yet to be identified type of diabetes, that is responsive to oral sulfonylureas. The influence of this gene on insulin secretion needs to be confirmed through future research.

Keywords: diabetes; CFAP126 gene; mutation

Corresponding author: Dr. Kashan Arshad, Department of Pediatric Endocrinology and Diabetes, Fellow Pediatric Endocrinology and Diabetes, The Children’s Hospital, University of Child Health Sciences, Lahore, Pakistan, E-mail: Kashan_arshad@hotmail.com

Research ethics: The local Institutional Review Board deemed the study exempt from review.
Informed consent: Informed consent was taken from parents for publication of this data and accompanying images.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Research funding: This case report did not receive any specific grant from any funding agency in the public, commercial or non-profit sector.

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Received: 2024-01-18

Accepted: 2024-07-21

Published Online: 2024-08-19

Published in Print: 2024-10-28

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0192

Keywords for this article

diabetes; CFAP126 gene; mutation