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Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region
المؤلفون المشاركون
Bchetnia, Mbarka
Youssef, Monia
Charfeddine, Cherine
Ben Brick, Ahlem Sabrine
Boubaker, Mohamed Samir
Zili, Jameleddine
Benmously, Rym
Abdelhak, Sonia
Mokni, Mourad
Laroussi, Nadia
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-09-04
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma.
It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet.
It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1).
We performed mutational analysis by direct sequencing of SLURP-1 gene in order to identify the genetic defect in three unrelated families (families MDM-12, MDM-13, and MDM-14) variably affected with transgressive palmoplantar keratoderma.
A spectrum of clinical presentations with variable features has been observed from the pronounced to the transparent hyperkeratosis.
We identified the 82delT frame shift mutation in the SLURP-1 gene in both families MDM-12 and MDM-13 and the missense variation p.Cys99Tyr in family MDM-14.
To date, the 82delT variation is the most frequent cause of MDM in the world which is in favour of a recurrent molecular defect.
The p.Cys99Tyr variation is only described in Tunisian families making evidence of founder effect mutation of likely Tunisian origin.
Our patients presented with very severe to relatively mild phenotypes, including multiple keratolytic pits observed for one patient in the hyperkeratotic area which was not previously reported.
The phenotypic variability may reflect the influence of additional factors on disease characteristics.
This report further expands the spectrum of clinical phenotypes associated with mutations in SLURP1 in the Mediterranean population.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Bchetnia, Mbarka& Laroussi, Nadia& Youssef, Monia& Charfeddine, Cherine& Ben Brick, Ahlem Sabrine& Boubaker, Mohamed Samir…[et al.]. 2013. Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region. BioMed Research International،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030199
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Bchetnia, Mbarka…[et al.]. Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region. BioMed Research International No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-1030199
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Bchetnia, Mbarka& Laroussi, Nadia& Youssef, Monia& Charfeddine, Cherine& Ben Brick, Ahlem Sabrine& Boubaker, Mohamed Samir…[et al.]. Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1030199
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1030199
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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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
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