Novel WDR72 mutations causing hypomaturation amelogenesis imperfecta
Yükleniyor...
Dosyalar
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects.
The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form.
A better understanding of normal amelogenesis and improvements in our ability to diagnose AI
through genetic testing can be realized through more complete knowledge of the genes and diseasecausing variants that cause AI. In this study, mutational analysis was performed with whole exome
sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in
affected families. Mutational analyses identified biallelic WDR72 mutations in four hypomaturation
AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4:
c.2680_2699delinsACTATAGTT, p.(Ser894Thrfs*15)), compound heterozygous mutations (paternal
c.2332dupA, p.(Met778Asnfs*4)) and (maternal c.1287_1289del, p.(Ile430del)) and a homozygous
3694 bp deletion that includes exon 14 (NG_017034.2:g.96472_100165del). A homozygous recurrent
mutation variant (c.1467_1468delAT, p.(Val491Aspfs*8)) was also identified. Current ideas on WDR72
structure and function are discussed. These cases expand the mutational spectrum of WDR72
mutations causing hypomaturation AI and improve the possibility of genetic testing to accurately
diagnose AI caused by WDR72 defects.
Açıklama
Anahtar Kelimeler
Hereditary, Mutation, WDR72, Exon Deletion, Enamel Defects
Kaynak
Journal of Personalized Medicine
WoS Q Değeri
Q1
Scopus Q Değeri
Q2
Cilt
13
Sayı
2
Künye
Kim, Y. J., Zhang, H., Lee, Y., Seymen, F., Koruyucu, M., Kasımoğlu, Y., Simmer, J., Hu, J. C-C., Kim, J. W. (2023). Novel WDR72 mutations causing hypomaturation amelogenesis imperfecta. Journal of Personalized Medicine, 13(2), 326.
