J Pediatr Genet 2019; 08(03): 168-171
DOI: 10.1055/s-0039-1685171
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

1  Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey
› Author Affiliations
Further Information

Publication History

25 December 2018

01 March 2019

Publication Date:
01 April 2019 (online)


In the present case report, we described a 6-year-old-boy with developmental delay, mental retardation, lack of speech, skin scars, and 2 to 3 toe syndactyly from healthy consanguineous Turkish parents. The whole exome sequencing (WES) analysis of this patient showed homozygous variant c.418T > C p.(Cys140Arg) in PROC gene and novel homozygous variant c.57dupC p.(Asn20Glnfs*2) in the DHCR7 gene. This finding demonstrated that WES is of great value for the diagnosis of two separate genetic disorders in a patient with multiple dysmorphic and other clinical features. It should also be kept in mind that the coexistence of two autosomal recessive diseases could be observed in highly related consanguineous marriages. The combined evaluation of clinical and laboratory data provided extremely valuable insight into the diagnosis of this unique case.