Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
JOURNAL OF MEDICAL GENETICS, cilt.50, sa.8, ss.515-520, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 50 Sayı: 8
- Basım Tarihi: 2013
- Doi Numarası: 10.1136/jmedgenet-2013-101634
- Dergi Adı: JOURNAL OF MEDICAL GENETICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.515-520
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet
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.