Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-04-17

AUTHORS

Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta

ABSTRACT

PurposeBardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations.Patient and methodsThe patient was a 22-year-old Japanese woman. Comprehensive ophthalmic examinations, including visual acuity measurements, perimetry, electroretinography (ERG), fundus autofluorescence imaging, and optical coherence tomography, were performed. Trio-based whole-exome sequencing was performed to identify potential pathogenic mutations, confirmed by Sanger sequencing.ResultsThe patient showed neither renal malformation nor dysfunction, and visual impairment seemed to be relatively mild for BBS. The fundus examination revealed diffuse retinal degeneration without pigmentary deposits, and ERG scans showed undetectable responses. She had a history of surgically corrected polydactyly, and displayed symptoms of obesity. There was also a menstrual irregularity that could require progestin administration. Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A [p.(G33E)], and a novel nonsense mutation c.2125A>T [p.(R709*)].ConclusionTo our knowledge, this is the first description of a Japanese patient with BBS caused by BBS10 mutations. The clinical characteristics of our patient were mild, as neither renal impairment nor legal blindness was observed. Early diagnosis would play a role in providing counseling, and in some cases, therapeutic interventions for BBS patients. More... »

PAGES

458-466

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10384-018-0591-8

DOI

http://dx.doi.org/10.1007/s10384-018-0591-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1103409747

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29666954


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59 coherence tomography
60 compound heterozygous BBS10 mutations
61 comprehensive ophthalmic examination
62 counseling
63 degeneration
64 deposits
65 description
66 diagnosis
67 diffuse retinal degeneration
68 disorders
69 dysfunction
70 dystrophy
71 early diagnosis
72 electroretinography
73 examination
74 first description
75 fundus examination
76 genetic analysis
77 heterozygous BBS10 mutations
78 history
79 hypogonadism
80 imaging
81 impairment
82 information
83 intervention
84 irregularities
85 knowledge
86 legal blindness
87 malformations
88 measurements
89 menstrual irregularities
90 mental impairment
91 missense mutation c.
92 mutation c.
93 mutations
94 nonsense mutation c.
95 novel missense mutation c.
96 novel nonsense mutation c.
97 obesity
98 ophthalmic examination
99 optical coherence tomography
100 pathogenic mutations
101 patients
102 perimetry
103 pigmentary deposits
104 polydactyly
105 potential pathogenic mutations
106 progestin administration
107 purpose
108 rare autosomal recessive disorder
109 recessive disorder
110 renal dysfunction
111 renal impairment
112 renal malformations
113 report
114 response
115 retinal degeneration
116 retinal dystrophy
117 role
118 scans
119 sequencing
120 study
121 symptoms
122 symptoms of obesity
123 syndrome
124 therapeutic intervention
125 tomography
126 trios
127 undetectable responses
128 visual acuity measurements
129 visual impairment
130 whole-exome sequencing
131 women
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