Nonsense and
frameshift mutations which implicate a premature stop codon and a truncated protein were considered deleterious.
C, Next-generation sequencing identified the presence of both N-terminal
frameshift mutation (CEBPA c.68_78delCGCACGCGCCC, p.Pro23fs; variant allele fraction 47%) and Cterminal in-frame deletion (CEBPA c.914_916delAGC, p.Gln305del; variant allele fraction 32%) D, Flow cytometric analysis reveals blasts with aberrant CD7 expression (Wright-Giemsa, original magnification X1000 [A]; hematoxylin-eosin, original magnification X600 [B]).
DNA testing identified a heterozygous duplication of (G) nucleotide at position 910 in the MLH1 gene (MLH1: c.910dupG), resulting in a
frameshift mutation affecting codon 304 and generating a premature stop three codons downstream (p.D304 fsX306) (Figure 2b).
PCG due to CYP1B1 mutations is an important cause of blindness in many populations.6 A
frameshift mutation c.736dupT, p.W246LfsX81 and other known mutations segregating with the disease phenotype in five of the six Pakistani PCG families in the study was identified.
Wang et al., "Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: detection of a novel FBN1
frameshift mutation," Forensic Science International, vol.
For example,
frameshift mutation or nonsense mutation may induce syndromic hearing loss.
In exon 3 of the HAX1 gene, we found a homozygous
frameshift mutation (c.423_424insG, p.Gly143fs).
Table 1 One copy of the variant c.698G>A (p.Cys233Tyr) Paternal mutation in exon 7 of the GCK gene (Refseq accession number NM_000162)
Frameshift mutation c.864delGinsCC, or Maternal mutation c.864G>C and c.872dupC, (p.Gly292ArgfsX25) in exon 4 of the HNF1a gene (Refseq accession number NM_000545) Fetal mutation c.[92G>A] (p.[(Gly31Asp)]1 Table 2: MODY subtypes and pregnancy implications (4 most common subtypes in descending order of frequency).
Wang and colleagues present a 4generation family with a novel loss-of-function
frameshift mutation in PAX6.
Interestingly, we found that the g.451A>G mutation was a synonymous mutation whereas g.462-463CC insertion caused a
frameshift mutation which both changed the amino acids after 23rd codon and generated a premature stop codon at position 56 (Figure 2C, Figure 3).
This is a
frameshift mutation, c.335dupA, which, very likely destroyed PAH gene function completely.
The previously reported
frameshift mutation, c.831dupC p.(Gly278Argfs95*), [10] was identified, homozygous, in 38.5% (35/91) of individuals in the study cohort.
