PMC6774216_01
Phenotype of a One-day-old Female Presenting with Purpura Fulminans. A one-day-old female neonate was transferred to our neonatal intensive care unit from a local hospital presenting with purpura fulminans that began four hours after birth. Note the progressive necrotic lesions from toe to heel on the right foot (a-c)
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PMC6774216_01_12959_2019_208_Fig1_HTML.jpg
Fig1
A one-day-old female neonate was transferred to our neonatal intensive care unit from a local hospital with a main complaint of progressive necrotic lesions from toe to heel on the right foot beginning at four hours after birth (Fig. 1).
Sequence Diagrams for the Patient and Parents. A genetic evaluation revealed the patient had compound heterozygous mutations of the PROC gene (NM-000312.3) inherited from the father and mother individually. From the father, a c._262 G > T mutation in exon 4 (red arrows in a-c). From the mother, a c.400 + 5G > A micromutation in intron 5 (red arrows in d-f). Both parents were heterozygous carriers for the mutation individually
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PMC6774216_01_12959_2019_208_Fig2_HTML.jpg
Fig2
Both parents were found to be heterozygous carriers for the mutation individually (Fig. 2).  