Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis

    April 2013 in “ Proceedings of the National Academy of Sciences of the United States of America ”
    Gina M. DeStefano, Katherine A. Fantauzzo, Lynn Petukhova, Mazen Kurban, Marija Tadin‐Strapps, Brynn Levy, Dorothy Warburton, Elizabeth T. Cirulli, Yujun Han, Xiaoyun Sun, Yufeng Shen, Maryam Shirazi, Vaidehi Jobanputra, Rodrigo Cepeda-Valdés, Julio C. Salas‐Alanís, Angela M. Christiano
    TLDR FGF13 gene changes cause excessive hair growth in a rare condition.
    The study investigated the genetic basis of X-linked congenital generalized hypertrichosis (CGH) in a large Mexican family, focusing on the FGF13 gene. Researchers identified a 389-kb interchromosomal insertion at Xq27.1 that cosegregated with the disease, leading to significantly reduced FGF13 mRNA levels in affected individuals. Histological and molecular analyses, including immunofluorescence staining and qRT-PCR, showed decreased FGF13 localization in the outer root sheath of hair follicles. The study, which included samples from 26 family members, suggested that the altered expression of FGF13 influenced hair follicle growth and the hair cycle, contributing to the hypertrichosis phenotype.
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