Fragile X Premutation in Adult Psychiatry: Four Cases and Overview of Clinical Presentation

Atbasoglu E. C., Sakarya D., GÜMÜŞ AKAY G., Sakarya A., Tukun A.

TURK PSIKIYATRI DERGISI, cilt.24, sa.1, ss.63-67, 2013 (SSCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 1
  • Basım Tarihi: 2013
  • Dergi Adı: TURK PSIKIYATRI DERGISI
  • Derginin Tarandığı İndeksler: Social Sciences Citation Index (SSCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.63-67
  • Anahtar Kelimeler: Carrier state, diagnosis, genetic testing, Fragile X syndrome, permutation, CGG REPEAT, PREVALENCE, RESOLUTION, EXPANSION, SITE
  • Ankara Üniversitesi Adresli: Evet

Özet

Fragile X carrier status, also named as Fragile X premutation (FraX-PM), is defined by trinucleotide repeat expansions of shorter length compared to those that cause the full syndrome. Its clinical significance has been limited to the risk of further expansion to a full mutation in the offspring of carriers, until it was recently recognized as a clinical syndrome on its own, manifested by unique symptom constellations, as well as a combination of neuropsychiatric signs and symptoms that may be indistinguishable from several commonly seen disorders. The complex heterogeneity of its neuropsychiatric manifestations may render the diagnosis challenging, unless the clinician is familiar with the clinical picture and transmission pattern. We present four cases of FraX-PM, diagnosed in an adult psychiatry setting and confirmed by genetic testing. The aim of this report is to increase familiarity among psychiatric practitioners, since this common condition is seldom included in the current diagnostic practice, which is based on atheoretical definitions.