参考文献 [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, 等.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, 等. 视网膜色素变性治疗循证指南
(2021 年 ).眼科,2021,30(4):249-258.
[31] FORSYTHE E, KENNY J, BACCHELLI C, etal. Managing
Barde t–Biedl 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. |