PMC8585998_01
Patient with SCN7 due to biallelic CSF3R mutations: (A) pedigree; (B) representative results of complete blood count in the family; (C) Sanger sequencing chromatogram of c.64+5G>A and c.690delC (NM_000760.3). WBC, white blood cell; ANC, absolute neutrophil count; Hb, hemoglobin; PLT, platelet.
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F1
Whole-exome sequencing of the patient and her parents identified a compound heterozygous mutation in the CSF3R gene (NM_000760.3) in the child, who inherited an intronic mutation (c.64+5G>A) from her father and a frameshift mutation (c.690delC, p.Met231Cysfs*32) from her mother (Figure 1).