TNFRSF11A (RANK) gen mutasyonu saptanan bir ailede prenatal tanı: Bir olgu sunumu
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Date
2013-10-25
Authors
Gül, Davut
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
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.
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.
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.
Description
Keywords
Mutasyon, TNFRSF11A geni, Prenatal tanı, Mutation, TNFRSF11A gene, Prenatal diagnosis
Citation
Karkucak, M. vd. (2014). "TNFRSF11A (RANK) gen mutasyonu saptanan bir ailede prenatal tanı: Bir olgu sunumu". Güncel Pediatri, 12(2), 123-126.