Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

Neurogenetics ◽  
2011 ◽  
Vol 12 (2) ◽  
pp. 117-121 ◽  
Author(s):  
Hiroyuki Ishiura ◽  
Yoko Fukuda ◽  
Jun Mitsui ◽  
Yasuo Nakahara ◽  
Budrul Ahsan ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Posterior Column ◽  
Japanese Family

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

A Novel Missense Mutation (p.P52R) in Amelogenin Gene Causing X-linked Amelogenesis Imperfecta

2007 ◽  
Vol 86 (1) ◽  
pp. 69-72 ◽  
Author(s):  
M. Kida ◽  
Y. Sakiyama ◽  
A. Matsuda ◽  
S. Takabayashi ◽  
H. Ochi ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Dental Enamel ◽  
Fluorescence Analysis ◽  
Hereditary Disease ◽  
Amelogenesis Imperfecta ◽  
X Ray Diffraction ◽  
Japanese Family ◽  
X Ray ◽  
Amelogenin Gene

Amelogenesis imperfecta (AI) is a hereditary disease with abnormal dental enamel formation. Here we report a Japanese family with X-linked AI transmitted over at least four generations. Mutation analysis revealed a novel mutation (p.P52R) in exon 5 of the amelogenin gene. The mutation was detected as heterozygous in affected females and as hemizygous in their affected father. The affected sisters exhibited vertical ridges on the enamel surfaces, whereas the affected father had thin, smooth, yellowish enamel with distinct widening of inter-dental spaces. To study the pathological cause underlying the disease in this family, we synthesized the mutant amelogenin p.P52R protein and evaluated it in vitro. Furthermore, we studied differences in the chemical composition between normal and affected teeth by x-ray diffraction analysis and x-ray fluorescence analysis. We believe that these results will greatly aid our understanding of the pathogenesis of X-linked AI.

scholarly journals Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

2010 ◽  
Vol 87 (5) ◽  
pp. 643-654 ◽  
Author(s):  
Anjali M. Rajadhyaksha ◽  
Olivier Elemento ◽  
Erik G. Puffenberger ◽  
Kathryn C. Schierberl ◽  
Jenny Z. Xiang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Posterior Column

A Japanese family with familial nonautoimmune hyperthyroidism with a novel mutation (Asn406Ser) in extracellular domain of thyrotrophin receptor

2012 ◽  
Vol 77 (2) ◽  
pp. 329-330 ◽  
Author(s):  
Shuji Fukata ◽  
Akira Hishinuma ◽  
Nobuhiro Nakatake ◽  
Junichi Tajiri
Keyword(s):  
Novel Mutation ◽  
Extracellular Domain ◽  
Japanese Family

scholarly journals Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.

1995 ◽  
Vol 32 (11) ◽  
pp. 915-916 ◽  
Author(s):  
S Xu ◽  
M Nakazawa ◽  
M Tamai ◽  
A Gal
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Japanese Family ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Chromosome 19Q

scholarly journals A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei-ning Li ◽  
Xiu-juan Du ◽  
Yu-ting Zhang ◽  
Le-yi Wang ◽  
Jing Zhu
Keyword(s):  
Visual Field ◽  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Genetic Mutation ◽  
Angle Closure Glaucoma ◽  
Angle Closure ◽  
The Novel ◽  
Progressive Loss ◽  
Whole Exome ◽  
Transversion Mutation

Abstract Background Retinitis pigmentosa (RP) is a rare, progressive, and hereditary disorder that leads to the progressive loss of vision and visual field, and in some cases blindness. The specific relationship between RP and glaucoma has been debated for decades. Methods In this study, we examined a Han RP family with concomitant angle-closure glaucoma (ACG), performed an inductive analysis of their clinical features and assistant results, and applied whole-exome sequencing (WES) technology for a molecular diagnosis. Results A novel transversion mutation (c.626 T > A) was identified in the peripherin-2 (PRPH2) gene in the proband, resulting in the substitution of Valine to aspartic acid in codon 209. A full ophthalmic examination showed that the proband with the c.626 T > A mutation had a typical RP manifestation, with close angles; however, the proband’s elder brother, who lacked the novel mutation, had a normal fundus and open angles. Conclusion Our results extend the genetic mutation spectrum of PRPH2 in RP, and provide evidence to support a genetic correlation between RP and ACG.

Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene

2013 ◽  
Vol 23 (2) ◽  
pp. 267-269 ◽  
Author(s):  
Keiichi Uchiyama ◽  
Gen Nakanishi ◽  
Noriki Fujimoto ◽  
Hajime Nakano ◽  
Daisuke Sawamura ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Japanese Family ◽  
Keratin 5

Autosomal recessive posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1998 ◽  
Vol 51 (6) ◽  
pp. 1772-1773 ◽  
Author(s):  
J. Berciano ◽  
J. M. Polo
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column

Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene

2019 ◽  
Vol 40 (2) ◽  
pp. 170-176 ◽  
Author(s):  
Hortensia Sanchez Tocino ◽  
Cecilia Diez Montero ◽  
Ana Villanueva Gómez ◽  
Rosa Lobo Valentin ◽  
Javier Antonio Montero-Moreno
Keyword(s):  
Retinitis Pigmentosa ◽  
High Myopia ◽  
Novel Mutation

Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria

2020 ◽  
Vol 47 (4) ◽  
Author(s):  
Akimasa Saito ◽  
Naoko Okiyama ◽  
Sae Inoue ◽  
Noriko Kubota ◽  
Yoshiyuki Nakamura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Erythropoietic Protoporphyria ◽  
Japanese Family
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