Current Genetics in Hair Diseases

The 2013 document "Current Genetics in Hair Diseases" provides a comprehensive overview of the genetic factors involved in various hereditary hair disorders. It details how mutations in keratin genes lead to conditions like monilethrix and pure hair and nail ectodermal dysplasia (PHNED), and how mutations in cell-cell adhesion molecules result in disorders such as localized autosomal recessive hypotrichosis 1 (LAH1). The document also covers mutations in genes like DSC3, JUP, DSP, PKP1, CDSN, SPINK5, ST14, CDH3, GJB6, and GJB2, which are responsible for a range of hair and skin syndromes, including those with additional symptoms like cardiomyopathy. It discusses the role of transcription factors and signaling pathways in hair follicle morphogenesis and hair disorders, highlighting the importance of genes such as EDA, EDAR, EDARADD, TRAF6, WNT10A, and APCDD1 in conditions like Hypohidrotic ectodermal dysplasia (HED) and Odontoonychodermal dysplasia (OODD). The document also notes the significance of lipid mediators in hair growth, particularly the LIPH gene in Localized autosomal recessive hypotrichosis 2 (LAH2) and woolly hair (WH). It concludes with the potential of whole genome sequencing to uncover additional genes involved in hair disorders and to enhance the understanding of hair follicle development and cycling. Specific numbers of study participants are not mentioned in the summary.