Genetic testing for Senior-Loken syndrome

Abeshi A., Zulian A., Beccari T., DÜNDAR M., Colombo L., Bertelli M.

EUROBIOTECH JOURNAL, cilt.1, ss.99-101, 2017 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24190/issn2564-615x/2017/s1.31
  • Dergi Adı: EUROBIOTECH JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.99-101
  • Erciyes Üniversitesi Adresli: Evet

Özet

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Senior-Loken syndrome (SLSN). SLSN is inherited in an autosomal recessive manner, has a prevalence of one in a million, and is caused by variations in CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1 and WDR19 genes. Clinical diagnosis is based on kidney (urine analysis, abdominal ultrasound, kidney function) and eye assessment (visual acuity test, fundus examination, refraction defects, color testing and electroretinography). The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.