Abstract
Biallelic mutations in the NBAS gene have been reported to cause three different clinical signs: short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome, infantile liver failure syndrome 2 (ILFS2) and a combined severe phenotype including both SOPH and ILFS2 features. Here, we describe a case of a 6-year-old Yakut girl who presented with clinical signs of SOPH syndrome, acute liver failure (ALF) and bone fragility by the type of osteogenesis imperfecta (OI). Targeted panel sequencing for 494 genes of connective tissue diseases of the patient revealed that he carried novel compound heterozygous missense mutation in NBAS, c.2535G>T (p.Trp845Cys), c.5741G>A (p.Arg1914His). Mutation affect evolutionarily conserved amino acid residues and predicted to be highly damaging. Timely health care of patients with such a set of clinical spectrum of SOPH syndrome, ALF and bone fragility by the type of OI can contribute to establishment coordinated multispecialty management of the patient focusing on the health problems issues through childhood.
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Acknowledgments
The authors are grateful to all participants of this study.
Funding
The study was supported by the Ministry Education and Science of Russian Federation (Project No. FSRG-2020-0014 “Genomics of Arctic: epidemiology, hereditary and pathology”).
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The authors declare that they have no competing interests.
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Petukhova, D.A., Gurinova, E.E., Sukhomyasova, A.L., Maksimova, N.R. (2020). Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta. In: Cai, Z., Mandoiu, I., Narasimhan, G., Skums, P., Guo, X. (eds) Bioinformatics Research and Applications. ISBRA 2020. Lecture Notes in Computer Science(), vol 12304. Springer, Cham. https://doi.org/10.1007/978-3-030-57821-3_4
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DOI: https://doi.org/10.1007/978-3-030-57821-3_4
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