Identification of NSDHL Mutations Associated with CHILD Syndrome in Oral Verruciform Xanthoma

Publication date: Available online 23 February 2019

Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Author(s): George Getz, Kshitij Parag-Sharma, Jonathan Reside, Ricardo J. Padilla, Antonio L. Amelio

ABSTRACT

Objective

To perform a systematic analysis of the NAD(P)-dependent steroid dehydrogenase-like (NSDHL) gene in cases of oral verruciform xanthoma (VX) and test for the presence of mutations associated with Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD) Syndrome patients.

Study Design

DNA was extracted from archived paraffin-embedded tissue of oral VX and control cases. Polymerase chain reaction (PCR) was then used to screen exons 4 and 6 of the NSDHL gene for the presence of four known germline mutations associated with CHILD Syndrome and one somatic mutation previously identified in VX lesions with no known CHILD Syndrome association.

Results

50% (8 out of 16) oral VX tissue samples had known missense mutations associated with CHILD syndrome. Furthermore, two of these aforementioned eight tissue samples also had an additional missense mutation previously identified in cutaneous VX lesions. No mutations of exons 4 and 6 were found in the five negative control tissue samples.

Conclusion

NSDHL gene mutations associated with CHILD Syndrome are common in sporadic oral VX cases suggesting that these mutations confer a greater risk for developing epithelial barrier defects that promote recurrent oral VX lesions and the potential for direct germline transmission of oral VX susceptibility.

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