Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.

Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. Currently, only four studies regarding LSS-related HS have been reported. In this study, we try to make a definite diagnosis in two unrelated Chinese families with three pediatric patients clinically suspected of HS. Whole-exome sequencing (WES) was performed for these two families to reveal the pathogenic mutation. WES revealed two different compound heterozygous mutations in LSS in two probands that confirmed the diagnosis, including three novel mutations. In this paper, we describe a new accompanying phenotype of teeth dysplasia in a HS patient. Moreover, we provide a review of all reported LSS mutation-related patients and infer some potential genotype-phenotype correlations for the first time.

Wnt5a/Ca (2+) /calcineurin/nuclear factor of activated T signaling pathway as a potential marker of pediatric melanoma.

Melanoma is rare in children, but its incidence appears to be increasing. Melanoma accounts for the highest mortality among all skin cancer types. This disease is characterized by high-grade malignancy, easy metastasis, poor prognosis, and high death rate. Melanoma in children may be biologically different from that in adults. Therefore, novel biomarkers need to be developed to understand the mechanism by which melanoma cells migrate and infiltrate. Such biomarkers will also be useful for the molecular recognition and targeted therapy of melanoma. Ca 2+ regulates the migration, proliferation, infiltration, and metastasis of cancer cells. Consequently, many studies investigated the relationship of the Wnt/Ca 2+ signaling pathway to tumor occurrence and development. This review summarizes and discusses the function of the Wnt5a/Ca 2+ /calcineurin/nuclear factor of the activated T signaling pathway in melanoma and evaluates its potential to be a biomarker of pediatric melanoma.