Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
المؤلفون المشاركون
Dudakova, Lubica
Skalicka, Pavlina
Ulmanová, Olga
Hlozanek, Martin
Stranecky, Viktor
Malinka, Frantisek
Vincent, Andrea L.
Liskova, Petra
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-04-29
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
Background.
The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family.
Methods.
We have performed ocular examination and review of medical records in two individuals diagnosed with nanophthalmos (proband and her father) and one individual followed for bilateral congenital cataract and microcornea (uncle of the proband).
DNA of subjects with nanophthalmos was analysed by exome sequencing.
Sanger sequencing was applied for targeted screening of potentially pathogenic variants and to follow segregation of identified variants within the family.
Results.
A homozygous variant c.1509G>C; p.(Met503Ile), in PRSS56 was found in the two individuals affected with nanophthalmos.
The change was absent from the gnomAD dataset, but two out of 118 control Roma individuals were also shown to be heterozygous carriers.
Analysis of single nucleotide polymorphisms in linkage disequilibrium with the c.1509G>C in PRSS56 suggested a shared chromosomal segment.
The nanophthalmos phenotype, characterized in detail in the younger individual, encompassed bilateral corneal steepening, retinal folds, buried optic head drusen, and restricted visual fields, but no signs of retinal dystrophy.
A known pathogenic founder CTDP1 variant c.863+389C>T in a homozygous state was identified in the other family member confirming the suspected diagnosis of congenital cataracts, facial dysmorphism, and demyelinating neuropathy syndrome.
Conclusions.
Herein, we report the first occurrence of nanophthalmos in the Roma population.
We have identified pseudodominant inheritance for this phenotype caused by a novel variant in PRSS56, representing a possible founder effect.
Despite advances in genetic technologies such as exome sequencing, careful phenotype evaluation in patients from an isolated population, along with an awareness of population-specific founder effects, is necessary to ensure that accurate molecular diagnoses are made.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Dudakova, Lubica& Skalicka, Pavlina& Ulmanová, Olga& Hlozanek, Martin& Stranecky, Viktor& Malinka, Frantisek…[et al.]. 2020. Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant. Journal of Ophthalmology،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1189593
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Dudakova, Lubica…[et al.]. Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant. Journal of Ophthalmology No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1189593
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Dudakova, Lubica& Skalicka, Pavlina& Ulmanová, Olga& Hlozanek, Martin& Stranecky, Viktor& Malinka, Frantisek…[et al.]. Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant. Journal of Ophthalmology. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1189593
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1189593
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر