Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study
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...
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Discover STM Publishing Ltd
2024-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | https://www.jbcgenetics.com/?mno=233313 |
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| author | Muhammad Umair Saleh Althenayyan Raja Hussain Ali |
| author_facet | Muhammad Umair Saleh Althenayyan Raja Hussain Ali |
| author_sort | Muhammad Umair |
| collection | DOAJ |
| description | 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. [JBCGenetics 2024; 7(2.000): 081-089] |
| format | Article |
| id | doaj-art-a43d5525cbc6423583ef246b5a80a4f7 |
| institution | Kabale University |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Discover STM Publishing Ltd |
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| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-a43d5525cbc6423583ef246b5a80a4f72025-08-20T03:42:18ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882024-02-017208108910.24911/JBCGenetics.183-1734375181233313Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic StudyMuhammad Umair0Saleh Althenayyan1Raja Hussain Ali2Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi ArabiaBackground: 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. [JBCGenetics 2024; 7(2.000): 081-089]https://www.jbcgenetics.com/?mno=233313iddtti2 genesaudi probandnovel mutationmicrocephalydevelopmental delay |
| spellingShingle | Muhammad Umair Saleh Althenayyan 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 idd tti2 gene saudi proband novel mutation microcephaly developmental delay |
| title | Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study |
| title_full | Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study |
| title_fullStr | Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study |
| title_full_unstemmed | Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study |
| title_short | Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study |
| title_sort | deciphering a novel tti2 mutation in a saudi proband with iddar39 a clinical and genetic study |
| topic | idd tti2 gene saudi proband novel mutation microcephaly developmental delay |
| url | https://www.jbcgenetics.com/?mno=233313 |
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