Cargando…

A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation

PURPOSE: To explore possible genetic aberrations in a Chinese family with aniridia, ptosis and mental retardation, and provide genetic evidence for the prenatal diagnosis. METHODS: 14 exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. Multiplex ligation-dependent probe a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hu, Ping, Meng, Lulu, Ma, Dingyuan, Qiao, Fengchang, Wang, Yan, Zhou, Jing, Yi, Long, Xu, Zhengfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307215/ https://www.ncbi.nlm.nih.gov/pubmed/25628759 http://dx.doi.org/10.1186/s13039-015-0110-2

Ejemplares similares

A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia
por: Li, Yinwen, et al.
Publicado: (2023)

PAX6 disease models for aniridia
por: Abdolkarimi, Dorsa, et al.
Publicado: (2022)

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report
por: Almind, Gitte J, et al.
Publicado: (2009)

PAX6 aniridia and interhemispheric brain anomalies
por: Abouzeid, Hana, et al.
Publicado: (2009)

Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011)

Novel PAX6 mutation reported in an aniridia patient
por: Winegarner, Andrew, et al.
Publicado: (2017)

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia
por: Wawrocka, Anna, et al.
Publicado: (2013)

PAX6 gene variations associated with aniridia in south India
por: Neethirajan, Guruswamy, et al.
Publicado: (2004)

Genotype–phenotype correlation of PAX6 gene mutations in aniridia
por: Yokoi, Tadashi, et al.
Publicado: (2016)

PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia
por: Pedersen, Hilde R., et al.
Publicado: (2020)

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
por: Ansari, Morad, et al.
Publicado: (2016)

A nonsense PAX6 mutation in a family with congenital aniridia
por: Han, Kyoung Hee, et al.
Publicado: (2016)

Novel clinical presentation and PAX6 mutation in families with congenital aniridia
por: Guo, Ruru, et al.
Publicado: (2022)

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus
por: Qian, Tianwei, et al.
Publicado: (2021)

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
por: Neethirajan, Guruswamy, et al.
Publicado: (2006)

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
por: Aggarwal, Shagun, et al.
Publicado: (2011)

A novel PAX6 deletion in a Chinese family with congenital aniridia
por: Chen, Jian Huan, et al.
Publicado: (2012)

Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China
por: Kang, Yang, et al.
Publicado: (2012)

PAX6, brain structure and function in human adults: advanced MRI in aniridia
por: Yogarajah, Mahinda, et al.
Publicado: (2016)

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
por: Chograni, Manèl, et al.
Publicado: (2014)

Identification of a novel PAX6 mutation in a Chinese family with aniridia
por: Qiu, Jing-Jing, et al.
Publicado: (2019)

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia
por: You, Bing, et al.
Publicado: (2020)

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia
por: Kit, Vivienne, et al.
Publicado: (2021)

A novel variant in PAX6 as the cause of aniridia in a Chinese family
por: Jin, X, et al.
Publicado: (2021)

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
por: Bandah, Dikla, et al.
Publicado: (2008)

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
por: Brémond-Gignac, Dominique, et al.
Publicado: (2010)

PAX6 analysis of two sporadic patients from southern China with classic aniridia
por: Lin, Ying, et al.
Publicado: (2012)

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation
por: Syrimis, Andreas, et al.
Publicado: (2018)

Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
por: Motoda, Saori, et al.
Publicado: (2018)

A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene
por: Ratna, Ria, et al.
Publicado: (2022)

A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
por: Wang, Qian, et al.
Publicado: (2023)

Giant Subependymoma Developed in a Patient with Aniridia: Analyses of PAX6 and Tumor‐relevant Genes
por: Maekawa, Motoko, et al.
Publicado: (2010)

A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract
por: Cai, Fucheng, et al.
Publicado: (2010)

Increased Corneal Epithelial Turnover Contributes to Abnormal Homeostasis in the Pax6(+/−) Mouse Model of Aniridia
por: Douvaras, Panagiotis, et al.
Publicado: (2013)

Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated
por: Osawa, Saeko, et al.
Publicado: (2015)

Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia
por: Wang, Xia, et al.
Publicado: (2017)

A rare association of aniridia with conjunctival xerosis in two Indian siblings with PAX6 mutation
por: Gopinathan, Nair Vidya, et al.
Publicado: (2020)

Protecting Pax6 3′ UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model
por: Yongblah, Kevin, et al.
Publicado: (2018)

Anesthetic management of a patient with Wilms tumor, aniridia, genital anomalies and mental retardation syndrome undergoing right nephrectomy
por: Shetti, Akshaya N., et al.
Publicado: (2015)

Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
por: Oszer, Aleksandra, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_difjis9s1gni343694vvkfka5u