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Table 1 Table lists all the cases with intragenic deletions discussed in this manuscript

From: Detection limit of intragenic deletions with targeted array comparative genomic hybridization

Case Gene Disease: Inheritance Mutation detected with sequencing Mutation detected with aCGH Deletion size
1 BCKDHB Maple syrup urine disease: AR c.596_597delGT Exon 9 deletion ~58 kb
2 FH Hereditary leiomyomatosis and renal cell cancer: AD   Exons 2–9 deletion ~19 kb
3 DBT Maple syrup urine disease: AR c.871C > T (p.R291X) Exon 5 deletion ~3.7 kb
4 HPRT1 Lesch-Nyhan syndrome: XL   Exon 5 deletion 2,319 bp
5 STK11 Peutz-Jeghers syndrome: AD   Exon 8 deletion 1,325 bp
6 STK11 Peutz-Jeghers syndrome: AD   Exon 3 deletion 971 bp
7 PAH Phenylketonuria: AR c.838G > A (p.E280K) Partial exon 6 deletion 801 bp
8 EMD Emery-Dreifuss muscular dystrophy: XL   Exon 2 deletion 267 bp
9 DBT Maple syrup urine disease: AR   Partial exon 11 deletion > 3.5 kb
     c.344-4del12 12 bp
10 POMT1 Walker-Warburg syndrome AR c.2167dupG No deletion: c.160_161ins349 False positive: Alu insertion
11 SLC9A6 X-linked intellectual disability: XL   No deletion False positive: hemizygous missense
12 GALT Galactosemia: AR c.855G > T (p.K285N) mutation & c.844C > G (p.L282V) variant No deletion False positive: compound heterozygous missense
  1. AD: Autosomal Dominant; AR: Autosomal Recessive; XL: X-linked.