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Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Lin HT, Enchautegui-Colon Y, Huang YR, Zimmerman C, DeMarzo D, Tsai AC. Lin HT, et al. Among authors: enchautegui colon y. Mol Genet Metab Rep. 2022 Nov 26;33:100942. doi: 10.1016/j.ymgmr.2022.100942. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36466970 Free PMC article.
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Tsai AC, Lin HT, Chou M, Bolen J, Zimmerman C, DeMarzo D, Enchautegui-Colon Y. Tsai AC, et al. Among authors: enchautegui colon y. Mol Genet Metab Rep. 2022 Mar 19;31:100859. doi: 10.1016/j.ymgmr.2022.100859. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782626 Free PMC article.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Among authors: enchautegui colon y. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.