Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta

Author:

Kim Youn Jung1,Zhang Hong2ORCID,Lee Yejin1,Seymen Figen3,Koruyucu Mine4ORCID,Kasimoglu Yelda4ORCID,Simmer James P.2,Hu Jan C.-C.2ORCID,Kim Jung-Wook15ORCID

Affiliation:

1. Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea

2. Department of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109, USA

3. Department of Paediatric Dentistry, Faculty of Dentistry, Altinbas University, Istanbul 34147, Turkey

4. Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul 34116, Turkey

5. Department of Molecular Genetics & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea

Abstract

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 disease-causing 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.

Funder

National Research Foundation of Korea

NIDCR/NIH

Publisher

MDPI AG

Subject

Medicine (miscellaneous)

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