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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
  1. Y Year, M Month