Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR‐ and EDA‐associated nonsyndromic oligodontia

• Published in: Human mutation Vol. 41; no. 11; pp. 1957 - 1966
• Main Authors: Zhang, Liutao, Yu, Miao, Wong, Sing‐Wai, Qu, Hong, Cai, Tao, Liu, Yang, Liu, Haochen, Fan, Zhuangzhuang, Zheng, Jinglei, Zhou, Yongsheng, Feng, Hailan, Han, Dong
• Format: Journal Article
• Language: English
• Published: United States Hindawi Limited 01.11.2020
• Subjects: Comparative analysis; Conserved sequence; Correlation analysis; Dysplasia; Ectodysplasin; ectodysplasin A; ectodysplasin A receptor; EDAR haploinsufficiency; Evolutionary conservation; Genetic disorders; Genetic screening; Genotypes; genotype–phenotype analysis; Haploinsufficiency; Mutation; nonsyndromic oligodontia; Phenotypes; Premolars; genotype-phenotype analysis; ectodysplasin A receptor; nonsyndromic oligodontia; EDAR haploinsufficiency; ectodysplasin A

Nonsyndromic oligodontia is a rare congenital anomaly. Mutations in the ectodysplasin A receptor (EDAR) gene are the primary cause of hypohidrotic ectodermal dysplasia but are rarely reported in nonsyndromic oligodontia. This study investigated EDAR mutations in multiplex nonsyndromic oligodontia an...