Abstract
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.
Keywords
DHCR7
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PROC
- novel mutation - co-occurrence - pediatrics