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Table 1 The proband’s three recessive heterozygous genes

From: A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review

Gene Chromosomal Location Transcriptional exons Nucleotides and amino acids Homozygous/heterozygous Normal frequency Calculate Pathogenicity analysis Mode of inheritance The phenotype of diseases
CEP290 chr12-88449443–88449443 NM_025114;exon50 c.6869dupA (p.N2290K fs*6) Het 0.00010 Pathogenic 1. AR 2. AR 3. AR 4. AR 5. AR (1) Bardet-Biedl syndrome (Type 14); (2) Joubert syndrome (Type 5); (3) Leber's congenital Haimeng (Type 10); (4) Meckel syndrome (Type 4); (5) SeniorLoken syndrome (Type 6)
ELP4 chr11-31703506 NM_001288726;exon10 c.1315C>T(p.L439F) Het 0.01140 B Uncertain AD Aniridia (Type 2)
OCA2 chr15-28263553 NM_000275;exon7 c.797G>A(p.R266Q) Het 0.00080 B Uncertain 1. AR 2. AR (1) Albinism (Type II); (2) Skin/hair/eye pigment variant (Type 1)
  1. Prediction: protein function prediction software REVEL (rare exome variant ensemble learner); P, prediction is harmful; B, prediction is benign; –, unknown