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Table 8 Analysis of genetic spectrum

From: Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

 

Total

Number

111

Origin

 

   Paternal

32 (28.8)

   Maternal

35 (31.5)

   De novo

44 (39.6)

DNA change

 

   Substitution

77 (69.4)

   Deletion

22 (19.8)

   Duplication

10 (9.0)

   Insertion

2 (1.8)

Amino acid change

 

    Missense

51 (45.9)

    Nonsense

23 (20.7)

    Deletion

4 (3.6)

    Frameshift

24 (21.6)

    Splicing defect

9 (8.1)

    Loss of function

53 (47.7)

Status

 

   Novel

56 (50.4)

   Existing

54 (48.6)

  1. Loss of function variants include nonsense, frameshift, start lost, single or multiple exons deletion and canonical ± 1 or 2 splice sites
  2. AR, autosomal recessive; AD, autosomal dominant; XL, X-linked
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172