A novel frameshift mutation of theEDA1gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia

Abstract

Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X-linked. However, X-linked HED (XLHED; OMIM 305100) is the most common form. Mutations within the EDA1 gene, which encodes ectodysplasin-A, are responsible for XLHED. In this study, we investigated the EDA1 gene in a Chinese Han family with XLHED, and found a novel 1-bp deletion mutation (c.952delG) in exon 9 of the EDA1 gene, which results in a frameshift and premature termination codon. This result suggests that the c.952delG mutation of the EDA1 gene is likely to be the disease-causing mutation for XLHED in this family. Our study adds new data to the worldwide knowledge of the molecular basis of XLHED.

Hypodontia: An Update on Its Etiology, Classification, and Clinical Management

“…At this stage, epithelial cells near to the dentine differentiate into ameloblasts, and these secrete an enamel matrix while controlling enamel mineralisation and maturation [37]. Secondary enamel knots control cusp formation in premolars and molars [38]. …”

ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review

“… 5 Together, these genes are responsible for EDA production, a critical signalling protein in embryogenesis that discerns the ectoderm and mesoderm. 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 The ectoderm–mesoderm interactions form the basis for development of skin, hair, nails, teeth and sweat glands. While HIED comprises several distinct features, pulmonary complications are frequent.…”

“…The genetic inheritance of HIEDs depends on the underlying genetic anomaly with X‐linked inheritance associated with the ectodysplasin A (EDA, locus Xq12‐q13.1, encoding ligand EDA‐A1) gene and autosomal inheritance with EDA receptor (EDAR) and EDAR‐associated death domain protein (EDARADD) 5 . Together, these genes are responsible for EDA production, a critical signalling protein in embryogenesis that discerns the ectoderm and mesoderm 6–13 . The ectoderm–mesoderm interactions form the basis for development of skin, hair, nails, teeth and sweat glands.…”

One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia

“…He also had a characteristic facial appearance of X-linked HED, including frontal bossing, absent or scarce eyebrows, a saddle nose, periorbital wrinkling and hyperpigmentation, and thickened, everted lips (Fig. 1)3. In addition, his mother's brother had similar symptoms and clinical onset.…”