A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

Topcu V., Alp M. Y., KEDİCİ ALP C., Bakir A., Geylan D., Yilmazoglu M. O.

OPHTHALMIC GENETICS, cilt.38, sa.2, ss.161-166, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.3109/13816810.2016.1164192
  • Dergi Adı: OPHTHALMIC GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.161-166
  • Anahtar Kelimeler: CNNM4, Jalili syndrome, missense mutation, novel, CONE-ROD DYSTROPHY, AMELOGENESIS IMPERFECTA, PROTEINS
  • Gazi Üniversitesi Adresli: Evet

Özet

Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. To date, 18 families with JS have been reported, 16 of which were found to have a mutation in CNNM4. We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). They demonstrated phenotypic variability in terms of ocular and dental findings. Although fundus examination and optical coherence tomography results were normal, the electroretinogram was compatible with CRD, supporting the diagnosis of JS. The dental phenotype severity also varied among the siblings.