دورية أكاديمية
أعرض في EDS

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.

التفاصيل البيبلوغرافية
العنوان: Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.
المؤلفون: Nieves-Moreno M; Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain., Noval S; Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain., Peralta J; Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain., Palomares-Bralo M; Department of Molecular Developmental Disorders, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Del Pozo A; Department of Bioinformatics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Garcia-Miñaur S; Department of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Santos-Simarro F; Department of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Vallespin E; Department of Molecular Ophthalmology, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain.
المصدر: Genes [Genes (Basel)] 2021 May 09; Vol. 12 (5). Date of Electronic Publication: 2021 May 09.
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Phenotype*, Aniridia/*genetics , Cataract/*genetics , Corneal Dystrophies, Hereditary/*genetics , Nystagmus, Congenital/*genetics , PAX6 Transcription Factor/*genetics, Adolescent ; Adult ; Aniridia/pathology ; Cataract/pathology ; Child ; Corneal Dystrophies, Hereditary/pathology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Nystagmus, Congenital/pathology
مستخلص: Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype-phenotype correlations difficult to establish.
Methods: we describe the phenotype of eight patients from seven unrelated families with confirmed mutations in PAX6 , and very different clinical manifestations.
Results: Only two patients had the classical aniridia phenotype while the other two presented with aniridia-related manifestations, such as aniridia-related keratopathy or partial aniridia. Congenital cataracts were the main manifestation in three of the patients in this series. All the patients had nystagmus and low visual acuity.
Conclusions: The diagnosis of mild forms of aniridia is challenging, but these patients have a potentially blinding hereditary disease that might present with a more severe phenotype in future generations. Clinicians should be aware of the mild aniridia phenotype and request genetic testing to perform an accurate diagnosis.
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فهرسة مساهمة: Keywords: PAX6; aniridia; congenital cataracts; nystagmus
المشرفين على المادة: 0 (PAX6 Transcription Factor)
0 (PAX6 protein, human)
تواريخ الأحداث: Date Created: 20210602 Date Completed: 20210830 Latest Revision: 20210830
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC8151272
DOI: 10.3390/genes12050707
PMID: 34065151
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes12050707