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Genes 2017, 8(10), 259; doi:10.3390/genes8100259

Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis

1,†
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2,†
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1
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1,* and 1,*
1
Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou 510055, China
2
Department of Oncology, Xianning Central Hospital, The First Affiliated Hospital of Hubei University of Science and Technology, Xianning 437100, China
These authors contributed equally to this work.
*
Authors to whom correspondence should be addressed.
Academic Editor: Terrence S. Furey
Received: 22 August 2017 / Revised: 21 September 2017 / Accepted: 29 September 2017 / Published: 5 October 2017
(This article belongs to the Section Human Genomics and Genetic Diseases)
View Full-Text   |   Download PDF [7236 KB, uploaded 13 October 2017]   |  

Abstract

Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic tooth agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing. Whole exome sequencing was performed for the proband of NSTA Family 4. Novel mutation c.1051G>T (p.Val351Phe) and the known mutation c.467G>A (p.Arg156His) of Ectodysplasin A (EDA) were identified in families with XLHED. Novel EDA receptor (EDAR) mutation c.73C>T (p.Arg25*), known EDA mutation c.491A>C (p.Glu164Ala), and known Wnt family member 10A (WNT10A) mutations c.511C>T (p.Arg171Cys) and c.742C>T (p.Arg248*) were identified in families with NSTA. The novel EDA and EDAR mutations were predicted as being pathogenic through bioinformatics analyses and structural modeling. Two variants of WNT10A, c.374G>A (p.Arg125Lys) and c.125A>G (p.Asn42Ser), were found in patients with NSTA. The two WNT10A variants were predicted to affect the splicing of message RNA, but minigene experiments showed normal splicing of mutated minigenes. This study uncovered the genetic foundations with respect to six families with XLHED or NSTA. We identified six mutations, of which two were novel mutations of EDA and EDAR. This is the first report of a nonsense EDAR mutation leading to NSTA. View Full-Text
Keywords: tooth agenesis; hypodontia; ectodermal dysplasia; EDA; WNT10A; EDAR; exome sequencing tooth agenesis; hypodontia; ectodermal dysplasia; EDA; WNT10A; EDAR; exome sequencing
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MDPI and ACS Style

Zeng, B.; Zhao, Q.; Li, S.; Lu, H.; Lu, J.; Ma, L.; Zhao, W.; Yu, D. Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. Genes 2017, 8, 259.

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