Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders.

Autor:	Mahadevan, Jayant, Sud, Reeteka, Nadella, Ravi Kumar, Vani, Pulaparambil, Subramaniam, Anand G., Paul, Pradip, Ganapathy, Aparna, Mannan, Ashraf U., Chandru, Vijay, Viswanath, Biju, Purushottam, Meera, Jain, Sanjeev
Předmět:	PROGRESSIVE supranuclear palsy NEUROBEHAVIORAL disorders FRONTOTEMPORAL lobar degeneration BECKER muscular dystrophy MEDICAL genetics GENETIC drift GENETIC variation
Zdroj:	Indian Journal of Psychological Medicine; Sep2022, Vol. 44 Issue 5, p516-522, 7p
Abstrakt:	Rare variant in gene known to cause disease
A1	49-year-old female with mood symptoms and progressive personality change diagnosed as Fronto-temporal dementia. I NF1 i is also associated with several neurobehavioral phenotypes, such as ID, ASD, and ADHD.[12] This gene has the highest rate of de novo mutations in the human genome, with ~3000 disease-causing mutations reported. Gene identified was known to be related to the patient's phenotype, but the variant identified was novel, or a new molecular interacting partner(s) of a causative gene was found Neither the gene nor the variant identified had previously been specifically implicated in the patient's phenotype but may have biological and heuristic significance. Genetic variants identified with next-generation sequencing (NGS) could help in accurate diagnosis, provide insights into aspects of disease biology,[1] and, thus, lead to improved care. [Extracted from the article]
Databáze:	Complementary Index
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