ArticleInternational journal of clinical and experimental medicine2015
Human pituitary homeobox-3 gene in congenital cataract in a Chinese family.
Article in International journal of clinical and experimental medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report.BMC ophthalmology · 2022Article
- Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in theAnnals of translational medicine · 2021Article
- Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.Experimental and therapeutic medicine · 2018Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesCongenital cataract is the common cause of world blindness. It is generally inherited as an autosomal recessive trait and has various phenotypes. This study aimed to explore the gene responsible for autosomal recessive congenital cataract in a Chinese family, and to investigate the functional and cellular consequences of the mutation.
methodsA four-generation Chinese family with autosomal recessive congenital cataract was included in the study. A genome wide scan and linkage analysis were performed in the chromosomal region of Pituitary homeobox 3 (PITX3) to identify the linked region of the genome. And sequence analysis of PITX3 gene was also investigated using BigDye Terminator mix 3.0 and SeqScape Software 2.5.
resultsThe genome wide scan and linkage analysis identified a disease-haplotype interva. The maximum logarithm of odds LOD score was (Zmax) 3.11 at marker D10S1693 (θmax=0.00), flanked by D10S1680 and D10S467, which included the PITX3 gene. Sequencing revealed a splice site mutation, G→A, at D10S1680 and D10S467, which co-segregated with all the affected members of this family.
conclusionsThe 543delG is a novel mutation in PITX3 causing an autosomal recessive congenital cataract.
Indexed as
Identifiers
26885225PMC4730011W2418320983What OpenQuestion holds
Registered trials
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