Table 1 Genetic detection methods and basic characteristics of seven children with CCD
From: Identification of RUNX2 variants associated with cleidocranial dysplasia
Proband ID | Gender | Age | Family history | Genetic detection methods |
|---|---|---|---|---|
Family_A_II1 | Male | 3Y | No | Inherited disease panel (Agilent) Hiseq4000(Illumina), Sanger sequencing |
Family_B_II1 | Female | 1Y9M | No | Focused exome panel (Agilent) Hiseq2500(Illumina), Sanger sequencing |
Family_C_II1 | Male | 9Y11 M | No | Sanger sequencing |
Family_D_II1 | Male | 12Y | No | xGen Exome research panel v1.0 (IDT) HiSeq4000(Illumina), Sanger sequencing |
Family_E_II1 | Female | 1 M | No | Sanger sequencing |
Family_F_III1 | Male | 3Y | Father with CCD | xGen Exome research panel v1.0 (IDT) HiSeq4000(Illumina), Sanger sequencing |
Family_G_III1 | Male | 6Y | Mother with CCD Uncle with CCD Grandmother with CCD | xGen Exome research panel v1.0 (IDT) HiSeq4000(Illumina), Sanger sequencing |