A family with Fragile XE (FRAXE) syndrome: the first report within Pakistan

    Iftikhar Ahmed(1*), Muhammad Ilyas(2), Gaurav Harlalka(3), Asif Mir(4)

Abstract

Abstract

Background: Fragile XE (FRAXE) is an X-linked recessive condition of intellectual disability affecting 1 in 50,000 new born male. FRAXE is characterized by mild ID, cognitive impairment, speech delay and some cases patients display Autism Spectrum disorder (ASD) like phenotypes.

Method: In this study, we investigated a family with two male siblings with neurodevelopmental delay Whole exome sequencing analysis (WES) was employed to identify the pathogenic variant. Co-segregation analysis was performed through Sanger sequencing in affected and normal family members.

Results:  Two affected Proband of family were diagnosed with intellectual disability.A novel hemizygous variant, c.3348G>T; p.Asp1150Tyr, inAFF2 gene was identified as the pathogenic cause in affected individuals. It is first novel variant report in AFF2 gene within Pakistani population.

Conclusion:  In this study, novel hemizygous variant, c.3348G>T; p.Asp1150Tyr, in AFF2 gene was identified. The findings broaden the clinical and genetic spectrum of rare X-linked recessive disorders causing ID.

 

Keywords: Intellectual Disability, AFF2 gene, hemizygous mutation, WES, neurological Disorders, Microarray SNP Genotyping

 

Keywords: AFF2, hemizygous, intellectual disability, neurological disorders

(1) Department of Biological Science, International Islamic University, H-10, Islamabad
(2) Department of Biological Science, International Islamic University, H-10, Islamabad
(3) Department of Pharmacology, Rajarshi Shahu College of Pharmacy3, Malvihir, Buldana, Maharashtra, India
(4) Department of Biological Science, International Islamic University, H-10, Islamabad
(*) Corresponding Author
Published
2021-07-09
How to Cite
Ahmed, I., Ilyas, M., Harlalka, G., & Mir, A. (2021). A family with Fragile XE (FRAXE) syndrome: the first report within Pakistan. Pakistan Journal of Medical Research, 60(2), 85-89. Retrieved from https://pjmr.org.pk/index.php/pjmr/article/view/226