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Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.
Karaer D, Karaer K. Karaer D, et al. Am J Med Genet A. 2022 Jun;188(6):1881-1884. doi: 10.1002/ajmg.a.62707. Epub 2022 Feb 28. Am J Med Genet A. 2022. PMID: 35224863
Here, we report two Turkish patients with two novel variants [c.2291_2292insC (p.Ser765LeufsTer6) and c.488G>A (p.Cys63Tyr)] in the SCARF2 gene. In silico analysis predicted that both of these novel variants were pathogenic. To the best of our knowledge, this is the fir …
Here, we report two Turkish patients with two novel variants [c.2291_2292insC (p.Ser765LeufsTer6) and c.488G>A (p.Cys63Tyr)] in the SCARF …
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS. Niederhoffer KY, et al. Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27375131
SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging mutations in several genes, most notably DGCR2 (p.P75L) and NCAM2 (p.S147G), both possible candidates for this child's intellectual disability. …
SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging muta …