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Original Article
Online Published: 16 Jan 2025
 


Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study

Muhammad Umair, Saleh Althenayyan, Raja Hussain Ali.


Abstract
Background: Intellectual Developmental Disorder, Autosomal Recessive 39 (IDDAR39) is a rare inherited condition caused by mutated TTI2 gene. The condition is characterized by intellectual disability and developmental delays, among other clinical features.
Methods: We conducted a genetic study in a Saudi proband (II-1) with intellectual disability (ID), developmental delay, mild microcephaly, short stature, and skeletal abnormalities. To identify potential disease-causing variant, whole-exome sequencing (WES) and Sanger-sequencing was utilized.
Results: WES analysis identified a bialelic TTI2-missense variant [c.1309T>G; p.(Cys437Gly)] in the proband (II-1). Disease causing variants in TTI2 have been previously associated with IIDAR39. The clinical features of the proband were consistent with the phenotypic presentation observed in other cases of IDDAR39.
Conclusion: The TTI2-novel variant identified in the present study is likely responsible for the clinical manifestations observed in the proband. This finding supports the critical role of TTI2 in neurodevelopmental processes in humans.

Key words: IDD, TTI2 gene, Saudi proband, Novel mutation, microcephaly, developmental delay


 
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Pubmed Style

Umair M, Althenayyan S, Ali RH. Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study. JBCGenetics. Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1734375181

Web Style

Umair M, Althenayyan S, Ali RH. Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study. https://www.jbcgenetics.com/?mno=233313 [Access: January 16, 2025]. doi:10.24911/JBCGenetics.183-1734375181

AMA (American Medical Association) Style

Umair M, Althenayyan S, Ali RH. Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study. JBCGenetics. Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1734375181


Vancouver/ICMJE Style

Umair M, Althenayyan S, Ali RH. Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study. JBCGenetics, [cited January 16, 2025]; Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1734375181


Harvard Style

Umair, M., Althenayyan, . S. & Ali, . R. H. (2024) Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study. JBCGenetics, Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1734375181


Turabian Style

Umair, Muhammad, Saleh Althenayyan, and Raja Hussain Ali. 2024. Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study. Journal of Biochemical and Clinical Genetics, Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1734375181


Chicago Style

Umair, Muhammad, Saleh Althenayyan, and Raja Hussain Ali. "Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study." Journal of Biochemical and Clinical Genetics Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1734375181


MLA (The Modern Language Association) Style

Umair, Muhammad, Saleh Althenayyan, and Raja Hussain Ali. "Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study." Journal of Biochemical and Clinical Genetics Online First: 16 Jan, 2025. Web. 16 Jan 2025 doi:10.24911/JBCGenetics.183-1734375181


APA (American Psychological Association) Style

Umair, M., Althenayyan, . S. & Ali, . R. H. (2024) Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study. Journal of Biochemical and Clinical Genetics, Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1734375181




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