Figure 1. HHAT mutation in 46,XY DSD with chondrodysplasia.

A) The familial case presented here consists of two non-consanguineous individuals with two siblings affected with chondrodysplasia. The histological analysis of the dysgenetic gonads revealed the presence of few immature seminiferous tubules in both left (B) and right (C) gonads (arrowheads). D) Sanger sequencing of the proband and parental genomic DNA confirmed the parental origin of the G>T substitution observed at position 860 of HHAT long isoform. E) The mutated Glycine 287 is conserved among vertebrates from zebrafish to humans, and is localized N-terminal to the 6th transmembrane domain of HHAT long isoform.