86个罕见病病种诊疗指南(2025年版)·Bardet-Biedl 综合征

2025-9-5 18:14| 发布者: 中医天地| 查看: 28| 评论: 0

摘要: Bardet-Biedl 综合征(BBS)又称为性幼稚-肥胖-多趾综合征,是一种罕见的非运动性纤毛功能障碍疾病,常染色体隐性遗传模式。主要是由编码BBS蛋白体、伴侣蛋白和纤毛内运输蛋白的基因变异所致, ...


考文献

[1] NIEDERLOVA V, MODRAK M, TSYKLAURI O, etal. Me ta -analysis of genotype -phenotype associations in Ba rdet-Biedl syndrome uncovers differences among causative genes. Hum Mutat,2019,40(11):2068-2087.

[2] BAKER K, BEALES PL. Making sense of cilia in disease : the human ciliopathies. Am J Med Gene t C Semin Med Gene t,2009,151C(4):281-295.

[3] TOBIN JL, BEALES PL. Bardet-Biedl syndrome : beyond the cilium. Pediatr Nephrol,2007,22(7):926-936.

[4] BERBARI NF, LEWIS JS, BISHOP GA, etal. Bardet-Biedl syndrome protein sare required for the loca lization of G prote in-coupled receptors to primary cilia . Proc Natl Acad Sci U S A,2008,105(11):4242-4246.

[5] JIN H, WHITE SR, SHIDA T, e t a l. The cons e rved Barde t-Biedl syndrome proteins assemble acoat that traffics membrane proteins to cilia . Ce ll, 2010,141(7):1208-1219.

[6] MARION V, STUTZMANN F, GÉRARD M, e t a l. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Barde t--Biedl syndrome with situs inversus and insertional polydactyly. J Med Gene t,2012,49(5):317-321.

[7] FORSYTHE E, BEALES PL. Bardet-Biedl syndrome . Eur J Hum Gene t,2013,21(1):8-13.

[8] 戴阳丽, 罗小平, 巩纯秀, .中国儿童 Ba rde t-Biedl 综合征诊治专家共识.中国实用儿科杂志,2022,37(4):241-247.

[9] KHAN SA, MUHAMMAD N, KHAN MA, e t a l. Gene tics of human Barde t-Biedl syndrome , an updates. Clin Gene t,2016,90(1):3-15.

[10] AJMAL M, KHAN MI, NEVELING K, e t a l. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Mol Vis,2013,19:644-653.

[11] HJORTSHØJ TD, GRØNSKOV K, BRØNDUM-NIELSEN K, e t a l. A novel founder

BBS1 muta tion expla ins a unique high preva lence of Ba rde t-Biedl syndrome in the Faroe Islands. Br J Ophtha lmol,2009,93(3):409-413.

[12] BEALES PL, ELCIOGLU N, WOOLF AS, etal. New criteria for improved diagnosis of Ba rde t-Biedl syndrome : results of a population survey. J Med Gene t,1999, 36(6):437-446.

 [13] WEIHBRECHT K, GOAR WA, PAK T, e t a l. Keeping an eye on Barde t-Biedl syndrome : a comprehensive review of the role of Barde t-Biedlsyndrome genes in the eye . Med Re s Arch,2017,5(9):10.18103/mra .v5i9.1526.

[14] FORSYTH R, GUNAY-AYGUN M. Ba rde t-Biedl Syndrome Ove rview//ADAM MP, FELDMAN J, MIRZAA GM, e t a l. GeneReviews. Seattle (WA): Unive rsity of Washington, Se a ttle , 2003.

[15] MUJAHID S, HUNT KF, CHEAH YS, e t a l. The endocrine and me tabolic characte ristics of a large Barde t-Biedl syndrome clinic population. J Clin Endocrinol Me tab,2018,103(5):1834-1841.

[16] FORSYTHE E, SPARKS K, BES S, e t a l. Risk factors for s evere renal disease in Bardet-Biedl syndrome . J Am Soc Nephrol,2017,28(3):963-970.

[17] HAWS RM, JOSHI A, SHAH SA, e t a l. Rena l transplanta tion in Ba rde t –Biedl syndrome . Pediatr Nephrol,2016,31(11):2153-2161.

[18] FLOREA L, CABA L, GORDUZA EV. Bardet-Biedl syndrome -multiple kaleidos cope images: insight into me chanisms of genotype -phenotype corre lations. Genes (Ba s e l),2021,12(9):1353.

[19] FAN Y, ESMAIL MA, ANSLEY SJ, e t a l. Muta tions in a membe r of the Rassupe rfamily of sma ll GTP-binding prote ins caus e s Ba rde t-Biedl syndrome . Na t Gene t, 2004,36(9):989-993.

[20] GOURONC A, ZILLIOX V, JACQUEMONT ML, etal. High prevalence of Barde t-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. Clin Gene t, 2020,98(2):166-171.

 [21] CHIANG AP, BECK JS, YEN HJ, etal. Homozygosity mapping with SNP a rrays identifies TRIM32, an E3 ubiquitin ligase , a s a Barde t-Biedl syndrome gene (BBS11). Proc Na tl Acad Sci U S A,2006,103(16):6287-6292.

[22] XING DJ, ZHANG HX, HUANG N, e t a l. Comprehensive mole cular diagnosis of Ba rde t-Biedl syndrome by high-throughput ta rge ted exome s equencing. PLoS One , 2014,9(3):e90599.

[23] SHAMSELDIN HE, SHAHEEN R, EWIDA N, e t a l. The morbid genome of ciliopa thies:an upda te . Gene t Med,2022,24(4):966.

[24] SCHAEFER E, LAUER J, DURAND M, etal. Me soaxial polyda ctyly is a major feature in Ba rde t-Biedl syndrome pa tients withLZTFL1(BBS17) muta tions. Clin Gene t,2014,85(5):476-481.

[25] KLEINENDORST L, ALSTERS SIM, ABAWI O, etal. Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74. Eur J Hum Gene t,2020,28(7):943-946.

[26] MORISADA N, HAMADA R, MIURA K, e t a l. Ba rde t-Biedl syndrome in two unrelated patients with identical compound he terozygous SCLT1 mutations. CEN Case Rep,2020,9(3):260-265.

[27] LINDSTRAND A, DAVIS EE, CARVALHO CMB, etal. Recurrent CNVs and SNVsat the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome . Am J Hum Gene t,2014,94(5):745-754.

[28] WORMSER O, GRADSTEIN L, YOGEV Y, etal. SCAPER loca lizes to primary cilia and its mutation affects cilia length, causing Barde t-Biedl syndrome . Eur J Hum Gene t,2019,27(6):928-940.

[29] WHEWAY G, MITCHISON HM, Genomics England Research Consortium. Opportunitie sand challenge s for mole cular unde rstanding of ciliopa thie s-The 100,000 genomes project. Front Gene t,2019,10:127.

[30] 曹凯, 金杉杉, 金子兵, . 视网膜色素变性治疗循证指南 (2021 ).眼科,2021,30(4):249-258.

[31] FORSYTHE E, KENNY J, BACCHELLI C, etal. Managing Barde tBiedl syndrome -now and in the future . Front Pediatr,2018,6:23.

[32] LEE H, LOTERY A. Gene the rapy for RPE65-media ted inherited retinal dystrophy completes phase 3. Lance t,2017,390(10097):823-824.

123

路过

雷人

握手

鲜花

鸡蛋

本站信息仅供参考,不能作为诊断医疗依据,所提供文字图片视频等信息旨在参考交流,如有转载引用涉及到侵犯知识产权等问题,请第一时间联系我们处理

在线客服|关于我们|移动客户端 | 手机版|电子书籍下载|中医启疾光网 ( 鄂ICP备20008850号 )

Powered by Discuz! X3.5© 2001-2025 Discuz! Team. zyqjg.com

版权

返回顶部