Expression profile of NSDHL in human peripheral tissues.

[child syndrome]

NAD (P ) steroid dehydrogenase-like (NSDHL ) is an X-linked gene that encodes a 3 β-hydroxysteroid dehydrogenase in the cholesterol biosynthetic pathway . Loss -of-function mutations in NSDHL cause Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD ) and CK syndromes . CHILD syndrome is a male lethal X-linked dominant disorder characterized by asymmetric skin and limb anomalies in affected females . CK syndrome is an intellectual disability disorder characterized by disproportionate short stature , brain malformations , and dysmorphic features in affected males . To understand better the relationship of the expression of mRNA and protein encoded by human NSDHL to the peripheral malformations of these disorders , we characterized the peripheral expression of the mRNA and protein by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR ), immunoblotting and immunohistochemistry . We also profiled the mRNA expression of mouse Nsdhl by in situ hybridization . Expression of the mRNA and protein encoded by human NSDHL parallels that of mouse Nsdhl mRNA for most but not all tissues . Furthermore , human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes .