Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism


Koroglu C. , Seven M., Tolun A.

JOURNAL OF MEDICAL GENETICS, cilt.50, ss.515-520, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 50 Konu: 8
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1136/jmedgenet-2013-101634
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.515-520

Özet

Background Infantile neuroaxonal dystrophy (INAD) is a recessive disease that results in total neurological degeneration and death in childhood. PLA2G6 mutation is the underlying genetic defect, but rare genetic heterogeneity has been demonstrated. One of the five families we studied did not link to PLA2G6 locus, and in the family one of the two affected siblings additionally had atypical features including facial dysmorphism, pectus carinatum, scoliosis, pes varus, zygodactyly and bilateral cryptorchidism as well as cerebellar atrophy, as previously reported.