Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

In the 2016 study on hypohidrotic ectodermal dysplasia (HED), researchers analyzed the genetic mutations in 101 patients out of a cohort of 124. They used Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to identify mutations in several genes associated with HED. The study found pathogenic mutations in 88% of cases in the EDA gene, 9% in EDA1R, and 3% in EDARADD, including 23 novel mutations. MLPA revealed exon copy-number variations in five unrelated families, and breakpoints of genomic rearrangements were localized in four cases. The study also explored the influence of specific single nucleotide polymorphisms (SNPs) on the disease phenotype, noting that the EDA1R variant rs3827760 was found in only one Asian individual and not in the European patients, while the EDA2R SNP rs1385699 appeared to affect the hair phenotype in European subjects with EDA mutations. This research contributed to a better understanding of the genetic diversity in HED and the effects of certain genetic variants on the disease.