Çocuk Sağlığı ve Hastalıkları Dergisi 2019 , Vol 62 , Num 3-4
Overlapping clinic of classic and prenatal types in a patient diagnosed with Cockayne syndrome
Abdulkerim Kolkıran *1 ,Büşra Aydın *2 ,Süleyman Atar *1 ,Gizem Ürel Demir *1 ,Özlem Akgün Doğan *1 ,Ekim Taşkıran *3 ,Pelin Özlem Şimşek Kiper *4 ,Gülen Eda Utine *5 ,Mehmet Alikaşifoğlu *6 ,Koray Boduroğlu *5
1 Hacettepe Üniversitesi Tıp Fakültesi, Pediatri Uzmanı, Ankara
2 Hacettepe Üniversitesi Tıp Fakültesi, Tıbbi Genetik Biyolog, Ankara
3 Hacettepe Üniversitesi Tıp Fakültesi, Tıbbi Genetik Doktora Öğretim Üyesi, Ankara
4 Hacettepe Üniversitesi Tıp Fakültesi, Pediatri Doçenti, Ankara
5 Hacettepe Üniversitesi Tıp Fakültesi, Pediatri Profesörü, Ankara
6 Hacettepe Üniversitesi Tıp Fakültesi,Tıbbi Genetik Profesörü, Ankara
Kolkıran A, Aydın B, Atar S, Ürel Demir G, Akgün Doğan Ö, Taşkıran E, Şimşek Kiper PÖ, Utine GE, Alikaşifoğlu M, Boduroğlu K. (Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey). Overlapping clinic of classic and prenatal types in a patient diagnosed with Cockayne syndrome. Çocuk Sağlığı ve Hastalıkları Dergisi 2019; 62: 61-66.

Cockayne syndrome (CS) is a rare, multisystemic, neurodegenerative disease with clinical signs of growth and developmental delay, microcephaly, sensorineural hearing loss, cataract/retinopathy, dental anomalies and sensitivity to sunlight. CS has been due to damaged `nucleotide excision repair` and defects in mitochondrial functions together. Mutations in the ERCC6 and ERCC8 genes cause CS. CS is a clinical spectrum. The mild end of this spectrum is UV-sensitive syndrome, while the most severe end is prenatal type. Classic form, late-onset and adult-onset form, xeroderma pigmentosum- Cockayne syndrome constitute intermediate forms. Clinical diagnosis in CS patients can be confirmed by molecular methods such as microarray and whole exome sequencing. In this presented case, after a normal pregnancy, the patient had hearing loss, cataract, microcephaly, growth and developmental retardation and malnutrition in the first months. Homozygous splice site mutation was found in ERCC6 gene. As the findings did not start during pregnancy, classical type features and prenatal type features together with rapid onset in early life were found together and suggested that there are no sharp boundaries between subgroups. Anahtar Kelimeler : Cockayne syndrome, whole exome sequencing, ERCC6 gene

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