TNFRSF11A RANK Gen Mutasyonu Saptanan Bir Ailede Prenatal Tanı: Bir Olgu Sunumu

Year 2014, Volume: 12 Issue: 2, 123 - 126, 01.09.2014

Mutlu Karkucak , Demet Hafızoğlu Şebnem Özemri Sağ Sevgen Tanır Başaranoğlu Orhan Görükmez Şebnem Sara Kılıç Tuna Gülten Tahsin Yakut Yalçın Kimya Davut Gül

https://doi.org/10.4274/jcp.55265

Abstract

Otozomal resesif osteopetrozis ORO genellikle infant veya çocukluk çağında ölüme yol açan ciddi bir hastalıktır. TNFSF11 geni tarafından kodlanan RANKL ve TNFRSF11A geni tarafından kodlanan RANK proteinleri osteoklast olgunlaşması için önemli olup bu genlerdeki mutasyonların ORO gelişiminde rol oynadığı gösterilmiştir. Bu yazıda aralarında akrabalık bulunan eşlerin 2 çocuğunda da TNFRSF11A geninde c.508 A→G homozigot mutasyonu pArg170Gly saptanmış. Bir sonraki gebelik sırasında CVS materyali üzerinde yapılan mutasyon analizinde, fetusta heterozigot mutasyon saptandı. Gebelik terme kadar devam etti ve sağlıklı bir erkek çocuk doğdu. Prenatal mutasyon analizi, mutasyonu bilinen hastalıklarda ebeveynin anksiyetesini rahatlatmak ve aileye genetik danışma vermek için önemlidir

Keywords

Mutasyon, TNFRSF11A geni, prenatal tanı

Prenatal Diagnosis in a Family of TNFRSF11A RANK Gene Mutation Detection: A Case Report

Abstract

Autosomal recessive osteoporosis ARO is a severe disease causing death usually at infancy or childhood. RANKL coded by TNFSF11 gene and RANK coded by TNFRSF11A gene are important proteins for osteoclast maturation and it is indicated that mutation on these genes plays an important role for ARO development. It is reported in this article that c.508 A→G homozygote mutation pArg170Gly is observed in TNFRSF11A gene of 2 children of consanguineous couple. Mutation analysis performed on CVS material during the next pregnancy revealed heterozygous mutation in the fetus. The pregnancy was continued to term and a healthy boy was delivered. Prenatal mutation analysis is important for diseases with known mutations to relieve parental anxiety and provide genetic counselling for the family

Keywords

Mutation, TNFRSF11A gene, prenatal diagnosis

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