Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta

Петухова, Д.А.; Gurinova, Elizaveta; Syromyatnikova, A. S.; Максимова, Н. Р.

doi:10.1007/978-3-030-57821-3_4

Cited by 3 publications

(3 citation statements)

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“…Depending on the period, from 1995 to 2022, all patients were found to be homozygous of c. 5741G>A (Arg1914His) by PCR‐RFLP, real‐time PCR, or targeted panel sequencing. Exceptions were one male who was found to be heterozygous for this variant and one female with the compound heterozygous variant c.2535G>T (p.W845C), c. 5741G>A (p. Arg1914His) reported earlier 6 . It was a case of osteogenesis imperfecta in a girl with SOPH‐syndrome, but because of the second mutant allele localization in the SEC39 domain, she was excluded from the C‐terminal comparison group.…”

Section: Resultsmentioning

confidence: 99%

“…We strived to perform a comparative analysis between the phenotypes of SOPH patients and carriers of the p. Arg1914His variant in the compound heterozygous state. In total, we have found the descriptions of 17 cases with compound heterozygosity in the available literature 6,10‐16 . Genetic variants other than p. Arg1914His in the NBAS gene included 1 missense, 7 nonsense, 4 frameshift, 3 splice‐site variants, and 2 long in‐frame deletions.…”

Section: Resultsmentioning

confidence: 99%

“…We strived to perform a comparative analysis between the phenotypes of SOPH patients and carriers of the p. Arg1914His variant in the compound heterozygous state. In total, we have found the descriptions of 17 cases with compound heterozygosity in the available literature 6,[10][11][12][13][14][15][16] . We did not find any specific traits regarding the cardiovascular, endocrinological, and the hematopoietic systems.…”

Section: Arg1914his Compound Phenotypementioning

confidence: 99%

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Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype

Zhozhikov

Syromyatnikova

Gurinova³

et al. 2023

Clinical Genetics

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Since the first report of SOPH syndrome among the Yakut population in 2010, new clinical data of SOPH-like conditions continue to appear. We expand the phenotypic spectrum of SOPH syndrome and perform a comparative analysis of Yakut SOPH patients' clinical data with SOPH-like conditions reported in the world scientific literature to form a foundation for NBAS pathogenesis discussion. Clinical data from the genetic records of 93 patients with SOPH syndrome and global survey data on patients with pathogenic variants of the C-terminal in the NBAS gene were collected.A detailed phenotype description of patients is presented with a total number of 111 individuals. Underweight below the fifth centile and prone to delayed bone age in Yakut SOPH patients are retrospectively observed. We outline the short stature with optic atrophy as the leading phenotyping trait for C-terminal NBAS patients. The pathophysiology and patients management of SOPH-like conditions are discussed.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…We strived to perform a comparative analysis between the phenotypes of SOPH patients and carriers of the p. Arg1914His variant in the compound heterozygous state. In total, we have found the descriptions of 17 cases with compound heterozygosity in the available literature 6,[10][11][12][13][14][15][16] . We did not find any specific traits regarding the cardiovascular, endocrinological, and the hematopoietic systems.…”

Section: Arg1914his Compound Phenotypementioning

confidence: 99%

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