Bi‐Allelic Splicing Variant, c.153‐<scp>2A</scp> > C in <scp><i>TOMM7</i></scp> Is Associated With Leigh Syndrome
Translocase of the outer mitochondrial membrane (TOMM) complex plays an important role in the transport of proteins from the cytoplasm into the mitochondria. TOMM7, one of the subunits of the TOMM complex, modulates its assembly and stability. Bi-allelic disease-causing variants in TOMM7 (MIM* 607980) have been previously reported in two unrelated families with a diverse phenotype of short stature, lipodystrophy, progeria, developmental delay, hypotonia, and skeletal dysplasia. We report a 4-month-old female child significantly affected with neonatal-onset hypotonia, lactic acidosis, optic atrophy, and neuroimaging findings suggestive of Leigh disease with a novel canonical splice variant, c.153-2A > C in TOMM7 (NM_019059.5). Further work done on cDNA of parents revealed the presence of shorter transcripts secondary to aberrant splicing.
Authors
- Katta M. Girisha
- Anju Shukla (ORCID: https://orcid.org/0000-0003-2471-4094)
- Periyasamy Radhakrishnan (ORCID: https://orcid.org/0000-0002-7690-3201)
- Shahyan Siddiqui
- Purvi Majethia (ORCID: https://orcid.org/0000-0002-2364-4111)
- Mayuri Yeole
- Vivekananda Bhat (ORCID: https://orcid.org/0000-0001-5069-2445)
Institutions
- Manipal Academy of Higher Education (IN)
- Yashoda Hospital (IN)
- Sultan Qaboos University (OM)
- Kasturba Medical College, Manipal (IN)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1002/ajmg.a.63892
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Wellcome Trust
- Department of Biotechnology, Ministry of Science and Technology, India
- The Wellcome Trust DBT India Alliance