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A novel nonsense mutation in BBS4 gene identified in a Chinese family with bardet-biedl syndrome

Chinese Medical Journal 2014年第24期127卷 4190-4196页

作者： Li Qian Zhang Yongpeng Jia Liyun Peng Xiaoyan Beijing Tongren Eye Center Beijing Key Laboratory of Ophthalmology and Visual Science Beijing Institute of Ophthalmology Beijing Tongren Hospital Capital Medical University Beijing 100730 China

Background bardet-biedl syndrome （BBS） is a genetically heterogeneous disease, and information about BBS in Chinese populations is very limited. The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family. Methods Clinical data were recorded for the 4-year-old female proband and the available family members. The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes （BBS1-BBS12）. The variants detected in the proband were further confirmed in the other family members. Results We identified a novel homozygous nonsense mutation （c.70A〉T, p.K24X） in the BBS4 gene exon 2 in the proband. Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein, and probably induced the nonsense-mediated decay of BBS4 messenger RNAs. The proband＇s parents and brother were heterozygous for the nonsense mutant allele. It was absent in 50 Chinese control subjects. An additional rare heterozygous missense single nucleotide polymorphism （SNP） named rs200718870 in BBS10 gene was also detected in the proband, her father and her brother. Some manifestations of the proband including atypical retinitis pigmentosa, choroidal sclerosis, high myopia, and early onset of obesity might be associated with this mutation in BBS4 gene. The proband＇s father also reported surgical removal of an extra finger during childhood. Conclusions The present study described a novel nonsense mutation in BBS4 gene in a Chinese family. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein. We also detected a rare heterozygous missense SNP in BBSIO gene in the family, but did not find sufficient evidence to support the triallelic inheritance.

关键词： bardet-biedl syndrome Chinese nonsense mutation novel BBS4 gene

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A Rare Classical Presentation of bardet-biedl syndrome in a Three-Year-Old Male from South East Nigeria: A Case Report

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Case Reports in Clinical Medicine 2016年第8期5卷 243-249页

作者： Nneka C. Okoronkwo Department of Paediatrics Abia State University Teaching Hospital Aba Nigeria

bardet-biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is rare in early childhood, and only few of the features are present at that age. This is because the disease is slow evolving. However, it is possible to find majority of the component of this syndrome in very young children. A 3-year old very obese male presented with clinical features of sepsis and congestive cardiac failure. He is a product of non-consanguineous marriage with unremarkable family history. Both parents are of the Ibo tribe in Nigeria. Polydactyly was noticed at birth. There was delay in some aspects of his developmental milestone. Examination revealed mild hypertelorism and retrognathia, polydactyly of both feet with syndactyly of the big and second toes. Other findings were short broad hands, mottled pigments on the retina, moderate mental retardation, hypogenitalism, nephrotic syndrome, renal tubulopathy, hyperglycaemia and hypopigmented skin lesions. A case of BBS with all the primary features and some secondary manifestations in a very young child is hereby reported. A high index of suspicion for BBS should be shown in any young child with at least one of the features of this syndrome. This will enhance earlier diagnosis and improve disease outcome.

关键词： bardet-biedl syndrome Early Childhood South East Nigeria Classical Presentation Case Report

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