Warburg Mikro Sendromu ile İlişkili TBC1D20 Geninde Yeni Bir Mutasyon

Yıl 2022, Cilt: 6 Sayı: 2, 231 - 234, 31.08.2022

Ayça Kocaağa , Sevgi Yimenicioğlu

https://doi.org/10.29058/mjwbs.1024327

Öz

Amaç: Warburg mikro sendromu (WARBM) RAB3GAP1, RAB3GAP2, RAB18 ve TBC1D20 genlerindeki
mutasyonlara bağlı olarak nadir görülen otozomal resesif bir hastalıktır. Sendrom mikrosefali, konjenital
katarakt ve mikrokornea gibi oküler bulgular, ağır entellektüel gerilik ve hipogonadizm ile karakterizedir.
Olgu: Takipleri sırasında WARBM tanısı konulan 3 yaşında bir erkek çocuğu sunuyoruz. Hastanın
genetik analiz sonuçları, TBC1D20 geninde ekzon 3’te patojenik ve WARBM 4 fenotipi ile korele olan
bir homozigot mutasyonu (c.259_260delinsCAC; p. Lys87HisfsTer42) ortaya çıkardı. Ebeveynlerin
mutasyonu heterozigot olarak taşıdığı gösterildi.
Sonuç: WES analizi WARBM’li akraba bir Türk ailesinde TBC1D20 geninde muhtemel patojenik yeni
bir mutasyon (c.259_260delinsCAC) gösterdi ve WARBM tanısını koymamızı sağladı.

Anahtar Kelimeler

konjenital katarakt , gen mutasyonu , homozigot , TBC1D20 , Warburg mikro sendromu , Tüm ekzom dizileme.

A Novel Mutation in the TBC1D20 Gene with Associated Warburg Micro Syndrome

Öz

Aim: Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder due to mutations
in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. The syndrome is characterized by
microcephaly, ocular findings such as congenital cataract, microcornea, severe intellectual disability,
and hypogonadism.
Case: We present a 3-year-old boy who was diagnosed with WARBM during follow-up.The genetic
analysis of the patient revealed a pathogenic mutation (c.259 260delinsCAC (p. Lys87HisfsTer42) in
exon 3 of the TBC1D20 gene, which correlates with WARBM 4. Their parents were shown to carry the
mutation heterozygously.
Conclusion: The WES analysis of a consanguineous Turkish family with WARBM showed a novel
mutation (c.259_260delinsCAC) in TBC1D20 gene that is most likely pathogenic and allowed us to
make the diagnosis of WARBM.

Anahtar Kelimeler

congenital cataracts , gene mutation , homozygous , TBC1D20 , Warburg micro syndrome , Whole exome sequencing.

Kaynakça

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