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Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F. Cotrina-Vinagre FJ, et al. Mol Genet Metab. 2021 Jun;133(2):201-210. doi: 10.1016/j.ymgme.2021.02.007. Epub 2021 Feb 27. Mol Genet Metab. 2021. PMID: 33707149
[(Lys65Arg)];[(Lys65=)]) that was transmitted from the clinically unaffected mother who was mosaic carrier of the variant. Variants in NBAS protein have been associated with ILFS2 (infantile liver failure syndrome-2), SOPH syndrome (short statur …
[(Lys65Arg)];[(Lys65=)]) that was transmitted from the clinically unaffected mother who was mosaic carrier of the variant. Variants in NBAS …
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
Suzuki S, Kokumai T, Furuya A, Nagamori T, Matsuo K, Ueda O, Mukai T, Ito Y, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H. Suzuki S, et al. Eur J Med Genet. 2020 Nov;63(11):104039. doi: 10.1016/j.ejmg.2020.104039. Epub 2020 Aug 14. Eur J Med Genet. 2020. PMID: 32805445
Biallelic neuroblastoma amplified sequence (NBAS) gene mutations have recently been identified to cause a reduction in its protein expression and a broad phenotypic spectrum, from isolated short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) syndrome or infantile …
Biallelic neuroblastoma amplified sequence (NBAS) gene mutations have recently been identified to cause a reduction in its protein expressio …