Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

Unzaki, Ai; Morisada, Naoya; Nozu, Kandai; Ye, Ming Juan; Ito, Shuichi; Matsunaga, Tatsuo; Ishikura, Kenji; Ina, Shihomi; Nagatani, Koji; Okamoto, Takayuki; Inaba, Yuji; Ito, Naoko; Igarashi, Toru; Kanda, Shoichiro; Ito, Ken; Omune, Kohei; Iwaki, Takuma; Ueno, K.; Yahata, Mayumi; Ohtsuka, Yasufumi; Nishi, Eriko; Takahashi, Nana; Ishikawa, Tomoaki; Goto, Shunsuke; Okamoto, Nobuhiko; Iijima, Kazumoto

doi:10.1038/s10038-018-0429-8

Cited by 37 publications

(50 citation statements)

References 20 publications

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“…SIX1 variants were identified in 5% (1/19) of the genetically diagnosed cases in this study. This percentage was similar to the results of previous reports 28,29 . No causative gene variants were identified in 25% of the typical BO/BOR syndrome cases in this study.…”

Section: Discussionsupporting

confidence: 92%

“…EYA1 variants account for 95% of the causative gene variants identified in this study. Similarly, EYA1 was commonly identified in BO/BOR cases in previous studies; 85% in Japanese patients 29 and 93% in French patients 28 . SIX1 variants were identified in 5% (1/19) of the genetically diagnosed cases in this study.…”

Section: Discussionsupporting

confidence: 70%

“…The frequency of one copy number loss of the EYA1 gene was 6% (1/18) in this study. In other reports, copy number loss of the EYA1 gene was also involved in BO/BOR syndrome, with 7% to 10% or more of cases caused by EYA1 copy number loss 28,29 . The most frequent clinical feature was hearing loss, which was observed in 97% of cases (31/32), followed by preauricular pits in 88% (29/33).…”

Section: Discussionmentioning

confidence: 78%

“…Unzaki et al . analyzed 36 Japanese families with clinically diagnosed BO/BOR syndrome and identified causative genes in 72% of them 29 . Thus, the diagnostic rate in this study was similar to the rates in these previous reports.…”

Section: Discussionmentioning

confidence: 99%

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Comprehensive analysis of syndromic hearing loss patients in Japan

Ideura

Nishio

Moteki

et al. 2019

Sci Rep

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More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 70%

Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

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Comprehensive analysis of syndromic hearing loss patients in Japan

Ideura

Nishio

Moteki

et al. 2019

Sci Rep

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“…: renal agenesis with death in utero) or moderate (e.g. : renal hypoplasia), unilateral or bilateral [9]. They are noted in approximately 67 % of BOR affected individuals [7].…”

Section: General Characteristicsmentioning

confidence: 99%

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

D’Arco

Youssef

Ioannidou

et al. 2020

European Journal of Radiology

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To describe in detail the temporal bone and brain findings in both common and rare syndromic causes of hearing loss, with the purpose of broadening among radiologists and enhance the current understanding of distinct imaging features in paediatric patients with syndromic hearing loss. Methods: A detailed search of electronic databases has been conducted, including PubMed, Ovid Medline, Scopus, Cochrane Library, Google Scholar, National Institute for Health and Care Excellence (NICE), Embase, and PsycINFO. Results: Syndromic causes of hearing loss are characterised by different and sometimes specific abnormalities in the temporal bone. Conclusion: A complete knowledge of the image findings in the temporal bones, brain, skull and other body regions is critical for the optimal assessment and management of these patients. 2.1. Inner ear The inner ear development starts late in the 3rd week of gestation, with the formation of the otic placode (an ectodermal thickening on both sides of the developing head).The otic placode later invaginates to form otic pits which then fuse to form the otic vesicle. By day 26, the ventral region of otic vesicle differentiates into the saccule, the lower pole of which gives rise to the cochlear duct, which will form 2.5 turns by the 8th week. During the 7th week, cochlear duct epithelial cells differentiate to form the Organ of Corti. The mesenchyme surrounding the cochlear

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Development of Neurogenic Placodes in Vertebrates

Buzzi

Hintze

Streit

2019

Encyclopedia of Life Sciences

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The cranial sensory nervous system comprises a diverse set of organs: the eye, ear and nose and the sensory ganglia that transmit touch, pain, temperature and gustatory information to the brain. Despite the structural and functional diversity of the adult organs, during development, they arise from a common pool of sensory progenitor cells. These progenitors are specified early during embryonic development in the nonneural ectoderm next to the future brain. Subsequently, they diversify to form sensory placodes, special patches of thickened epithelium adjacent to the developing neural tube. Each placode acquires its unique identity under the influence of signals from surrounding tissues and later generates specialised cell types that characterise each organ. Key Concepts Evolution of elaborate sensory systems in the head allowed vertebrate evolution. Sensory placodes are transient structures that form in the head ectoderm outside of the central nervous system and contribute to the sense organs and cranial sensory ganglia. All sensory placodes arise from a pool of multipotent progenitors that have initially the potential to give rise to all placode derivatives, but their potential becomes restricted as the embryo develops. Placode progenitors develop in close association with central nervous system precursors and neural crest cells in a territory termed the ‘neural plate border’. Placode progenitors are induced gradually in the ectoderm surrounding the anterior neural plate by signals from the underlying mesoderm. These signals differ along the rostro‐caudal axis with FGFs, BMP and Wnt antagonists inducing posterior progenitors, while anterior progenitors also require Shh and neuropeptides. Localised sources of different signals induce olfactory, trigeminal, otic and epibranchial placodes from sensory progenitor cells. Signals induce the expression of transcription factors in broad ectodermal domains, and mutual repression between them sharpen boundaries between neural, neural crest and placodal and between precursors for different placodes.

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Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

Cited by 37 publications

References 20 publications

Comprehensive analysis of syndromic hearing loss patients in Japan

Comprehensive analysis of syndromic hearing loss patients in Japan

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

Development of Neurogenic Placodes in Vertebrates

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