A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits
We find a novel homozygous mutation in the <i>CPLANE1</i> gene in a patient of non-consanguineous parentage with atypical orofacial features. This suggests that potentially deleterious, rare variants may occur in the heterozygous state in the population. Hence, sequencing of population samples might help understand the genetic epidemiology of rare syndromes.
Authors
- T Murali (ORCID: https://orcid.org/0000-0003-4618-5787)
- Vishnu Prasad (ORCID: https://orcid.org/0000-0001-7430-5390)
- Sanjeev Jain (ORCID: https://orcid.org/0000-0002-9508-351X)
- Biju Viswanath (ORCID: https://orcid.org/0000-0002-7317-1789)
- Bhagyalakshmi Shankarappa (ORCID: https://orcid.org/0000-0002-7610-715X)
- Suhas Ganesh (ORCID: https://orcid.org/0000-0003-1833-1986)
- Meera Purushottam (ORCID: https://orcid.org/0000-0002-4000-268X)
- Sujith Kumar
- Pannaga Prasad
- Mahadeva M. M. Swamy
- Ashitha S. Niranjana Murthy
- Ravi Shankar Rao
- Angel Beula Royal
Institutions
- University of Mysore (IN)
- Oxford Dental College and Hospital (IN)
- M.S. Ramaiah Medical College (IN)
- National Institute of Mental Health and Neurosciences (IN)
- Bangalore Medical College and Research Institute (IN)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-10-08
- DOI
- https://doi.org/10.1159/000541167
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute of Mental Health and Neurosciences
- Department of Science and Technology, Ministry of Science and Technology, India
- National Institute of Mental Health