A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature

被引：6

作者：

Chiu, Ning ^{[1
]}

Lee, Winston ^{[2
,3
]}

Liu, Pei-Kang ^{[3
,4
,5
,6
]}

Levi, Sarah R. ^{[3
]}

Wang, Hung-Hsi ^{[3
]}

Chen, Nelson ^{[3
]}

Kang, Eugene Yu-Chuan ^{[7
,8
]}

Seo, Go Hun ^{[9
]}

Lee, Hane ^{[9
]}

Liu, Laura ^{[7
,8
]}

Wu, Wei-Chi ^{[7
,8
]}

Tsai, Shawn H. ^{[1
,10
,11
]}

Wang, Nan-Kai ^{[3
]}

机构：

[1] Mackay Mem Hosp, Dept Ophthalmol, 92,Sec 2,Chung Shan North Rd, Taipei 10449, Taiwan

[2] Columbia Univ, Dept Genet & Dev, New York, NY USA

[3] Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, Irving Med Ctr, New York, NY 10027 USA

[4] Kaohsiung Med Univ, Kaohsiung Med Univ Hosp, Dept Ophthalmol, Kaohsiung, Taiwan

[5] Kaohsiung Med Univ, Coll Med, Sch Med, Kaohsiung, Taiwan

[6] Natl Sun Yat Sen Univ, Inst Biomed Sci, Kaohsiung, Taiwan

[7] Chang Gung Univ, Coll Med, Taoyuan, Taiwan

[8] Chang Gung Mem Hosp, Linkou Med Ctr, Dept Ophthalmol, Taoyuan, Taiwan

[9] 3Billion Inc, Div Med Genet, Seoul, South Korea

[10] Chung Shan Med Univ, Dept Optometry, Taichung, Taiwan

[11] Mackay Jr Coll Med Nursing & Management, Dept Optometry, Taipei, Taiwan

来源：

OPHTHALMIC GENETICS | 2022年 / 43卷 / 03期

关键词：

Ciliopathy; CFAP410; C21orf2; retinal dystrophy; cone-rod dystrophy; short stature; whole exome sequencing; RETINAL DYSTROPHY; PROTEIN; C21ORF2;

D O I：

10.1080/13816810.2021.2010773

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Ciliopathies are a group of genetic dystrophies causing syndromic and non-syndromic retinal degeneration. We identified CFAP410 as the causative gene in a patient with childhood-onset retinal dystrophy without other systemic symptoms at the age of 20. This 20-year-old man presented with cone-rod dystrophy and CFAP410 homozygous in-frame duplication variants (c.340_351dup). His clinical features included early subnormal vision, posterior pole staphyloma, and short stature. Unlike the previously reported features of retinal ciliopathy, our patient showed no obvious retinal pigmentation and only a slight hyper-autofluorescent parafoveal ring at the 16-year follow up. This case report aims to characterize the clinical features in a patient with novel, homozygous and likely pathogenic in-frame duplication variants in the CFAP410 gene. Ultimately, this report will help contribute to the understanding of CFAP410-associated ciliopathies.

引用

页码：378 / 384

页数：7

共 28 条

[1] The retinal ciliopathies [J].

Adams, N. A. ;

Awadein, Ahmed ;

Toma, Hassanain S. .

OPHTHALMIC GENETICS, 2007, 28 (03) :113-125

[2] Photoreceptor Cilia and Retinal Ciliopathies [J].

Bujakowska, Kinga M. ;

Liu, Qin ;

Pierce, Eric A. .

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY, 2017, 9 (10)

[3]

Chen Holly Yu, 2019, Transl Sci Rare Dis, V4, P97, DOI 10.3233/TRD-190038

[4]

Choi YH, 2012, PLOS ONE, V7, DOI [10.1371/journal.pone.0039927, 10.1371/journal.pone.0046688]

[5] WebLogo: A sequence logo generator [J].

Crooks, GE ;

Hon, G ;

Chandonia, JM ;

Brenner, SE .

GENOME RESEARCH, 2004, 14 (06) :1188-1190

[6] Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15 [J].

Hadalin, Vlasta ;

Sustar, Maja ;

Volk, Marija ;

Maver, Ales ;

Sajovic, Jana ;

Jarc-Vidmar, Martina ;

Peterlin, Borut ;

Hawlina, Marko ;

Fakin, Ana .

GENES, 2021, 12 (04)

[7] Mechanisms of Disease: Ciliopathies [J].

Hildebrandt, Friedhelm ;

Benzing, Thomas ;

Katsanis, Nicholas .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (16) :1533-1543

[8] Predicting Splicing from Primary Sequence with Deep Learning [J].

Jaganathan, Kishore ;

Panagiotopoulou, Sofia Kyriazopoulou ;

McRae, Jeremy F. ;

Darbandi, Siavash Fazel ;

Knowles, David ;

Li, Yang I. ;

Kosmicki, Jack A. ;

Arbelaez, Juan ;

Cui, Wenwu ;

Schwartz, Grace B. ;

Chow, Eric D. ;

Kanterakis, Efstathios ;

Gao, Hong ;

Kia, Amirali ;

Batzoglou, Serafim ;

Sanders, Stephan J. ;

Farh, Kyle Kai-How .

CELL, 2019, 176 (03) :535-+

[9] Consensus Finder web tool to predict stabilizing substitutions in proteins [J].

Jones, Bryan J. ;

Kan, Chi Nok Enoch ;

Luo, Christine ;

Kazlauskas, Romas J. .

ENZYME ENGINEERING AND EVOLUTION: GENERAL METHODS, 2020, 643 :129-148

[10] The mutational constraint spectrum quantified from variation in 141,456 humans [J].

Karczewski, Konrad J. ;

Francioli, Laurent C. ;

Tiao, Grace ;

Cummings, Beryl B. ;

Alfoldi, Jessica ;

Wang, Qingbo ;

Collins, Ryan L. ;

Laricchia, Kristen M. ;

Ganna, Andrea ;

Birnbaum, Daniel P. ;

Gauthier, Laura D. ;

Brand, Harrison ;

Solomonson, Matthew ;

Watts, Nicholas A. ;

Rhodes, Daniel ;

Singer-Berk, Moriel ;

England, Eleina M. ;

Seaby, Eleanor G. ;

Kosmicki, Jack A. ;

Walters, Raymond K. ;

Tashman, Katherine ;

Farjoun, Yossi ;

Banks, Eric ;

Poterba, Timothy ;

Wang, Arcturus ;

Seed, Cotton ;

Whiffin, Nicola ;

Chong, Jessica X. ;

Samocha, Kaitlin E. ;

Pierce-Hoffman, Emma ;

Zappala, Zachary ;

O'Donnell-Luria, Anne H. ;

Minikel, Eric Vallabh ;

Weisburd, Ben ;

Lek, Monkol ;

Ware, James S. ;

Vittal, Christopher ;

Armean, Irina M. ;

Bergelson, Louis ;

Cibulskis, Kristian ;

Connolly, Kristen M. ;

Covarrubias, Miguel ;

Donnelly, Stacey ;

Ferriera, Steven ;

Gabriel, Stacey ;

Gentry, Jeff ;

Gupta, Namrata ;

Jeandet, Thibault ;

Kaplan, Diane ;

Llanwarne, Christopher .

NATURE, 2020, 581 (7809) :434-+

← 1 2 3 →