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Disease Category: autosomal recessive

Patient Population: eight+

Active Clinical Trials: None at this time

Treatment Options: None known

Strategies to Preserve Eye Health: None known

Institution(s) Conducting Research:


Image by Severin Demchuk



Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

Sarah Hull, Nicholas Owen, Farrah Islam, Dhani Tracey-White, Vincent Plagnol, Graham E. Holder, Michel Michaelides, Keren Carss; F. Lucy Raymond, Jean-Michel Rozet, Simon C. Ramsden, Graeme C. M. Black, Isabelle Perrault, Ajoy Sarkar, Mariya Moosajee, Andrew R. Webster, Gavin Arno, Anthony T. Moore | Investigative Ophthalmology & Visual Science | March 2016 | Vol.57 | 1053-1062 | | 15-17976

Purpose: Mutations in the ciliary transporter gene IFT140, usually associated with a severe syndromic ciliopathy, may also cause isolated retinal dystrophy. A series of patients with nonsyndromic retinitis pigmentosa (RP) due to IFT140 was investigated in this study.

Conclusions: This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease.

Mutations in human IFT140 cause non-syndromic retinal degeneration

Mingchu Xu, Lizhu Yang, Feng Wang, Huajin Li,3 Xia Wang, Weichen Wang, Zhongqi Ge, Keqing Wang, Li Zhao, Hui Li, Yumei Li, Ruifang Sui, and Rui Chen | Human Genetics | 28 July 2015 | Vol 134 | 1069–1078 |

In this study, we totally investigated seven unrelated non-syndromic RD patients, including five RP and two LCA cases. Among them, five of them are Han Chinese and the remaining two are of European ethnicity diagnosed in United States. The index case we investigated, SRF71, is a 43-year-old male RP patient of Han Chinese ethnicity. . . 

Preliminary screening by retinal capture sequencing found no causative mutations in known RP-causing genes. WES data show that he has biallelic variants in IFT140,  . . .

Compound heterozygous variants in IFT140 as a cause of non-syndromic Retinitis Pigmentosa

Tisiana Low, Anastassios Kostakis, Meena Balasubramanian | Ophthalmic Genetics | Vol 39 (2) | 286-287 | ISSN 1381-6810

Retinitis pigmentosa (RP) refers to a group of inherited disorders that affect the retina’s ability to respond to light, leading to progressive visual loss. Retinitis pigmentosa sine pigmento is a variant of RP in which there is an absence of characteristic peripheral bone-spicule like pigmentary changes. One of the genes found to be responsible for RP is IFT140, a ciliary transporter gene (OMIM *614620). Homozygous and compound heterozygous IFT140 . . .

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

Margarita Sharova, Tatyana Markova, Maria Sumina, Marina Petukhova, Maria Bulakh, Oxana Ryzhkova, Tatyana Nagornova, Sofya Ionova, Andrey Marakhonov, Elena Dadali, Sergey Kutsev | Genes | 2023 | Vol 14 (8) | 1553 |

The IFT140 gene encodes for the IFT140 protein, which is part of a large multi-protein complex called the intraflagellar transport (IFT) complex. This complex is essential for the formation, maintenance, and function of the cilia, which are hair-like structures that extend from the surface of diverse types of cells. Biallelic pathogenic variants in IFT140 or other IFT-A complex genes can cause defective retrograde cilial transport. This can result in a range of disorders known as ciliopathies, which can affect multiple organ systems and cause a variety of symptoms, including vision and hearing loss, skeletal abnormalities, kidney disease, and developmental delay.

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Lulin Huang, Qi Zhang, Xin Huang, Chao Qu, Shi Ma, Yao Mao, Jiyun Yang, You Li, Yuanfeng Li, Chang Tan, Peiquan Zhao, Zhenglin Yang | Scientific Reports | 7 | 1948 | 2017

Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we recruited 98 small Han Chinese families clinically diagnosed as RP, including of 22 dominant, 19 recessive, 52 sporadic, and five X-linked. We then used whole exome sequencing (WES) analysis to detect mutations in the genes known for RP in 101 samples from these 98 families.



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