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| Osteogenesis Imperfecta and Osteoporosis v1.12 | NUDT6 | Zornitza Stark Marked gene: NUDT6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.12 | NUDT6 | Zornitza Stark Gene: nudt6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.12 | NUDT6 | Zornitza Stark Phenotypes for gene: NUDT6 were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, NUDT6-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.11 | NUDT6 |
Chirag Patel gene: NUDT6 was added gene: NUDT6 was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Expert List Mode of inheritance for gene: NUDT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUDT6 were set to Osteogenesis imperfecta Review for gene: NUDT6 was set to RED Added comment: Not associated with any disease phenotype in OMIM. The publication citation from a presentation given by Essawi et al. at the American Society of Human Genetics (ASHG 2018) conference ("A homozygous missense variant in NUDT6 is responsible for an autosomal recessive form of osteogenesis imperfecta"). A consanguineous Palestinian family with 3 affected individuals with clinical diagnosis of OI. Exome sequencing revealed a novel homozygous missense variant (c.308G>T, p.Arg103Leu) in exon 2 of NUDT6 gene. The variant segregated with the disease in the family (6 non-affected family members were either heterozygous carriers or non-carriers). NUDT6 is an expression regulator for the FGF2 gene. Functional studies show that NUDT6 was down-regulated in the proband's dermal fibroblasts and FGF2 was upregulated (RT-qPCR). Overexpression of the wild type and mutant NUDT6 gene in different cell lines showed significantly decreased levels of mutant NUDT6 RNA expression. Sources: Expert List |
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