A novel heterozygous de novo frameshift
variant (figure 2) in AHDC1 (NM_001029882.3) was identified: c.1529delG (p.Gly510Alafs*12).
The vast majority of germline mutations occur as an Nterminal frameshift
c.415_418dupGATG (p.D140Gfs*2), but other rare germline frameshift
mutations or missense variants have also been reported.
In summary, we reported the first case of a patient from Colombia with a frameshift
pathogenic variant not reported previously in the KMT2Agene.
The majority of the MMR mutations are truncating (nonsense or frameshift
), and most of them are specific to a single family (11).
Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.
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.
In this notation, "del" means deletion, "ins" means insertion, "dup" means duplication, "fs" means frameshift
, and "*" indicates a stop codon gained.
To date, about 3000 mutations  have been detected in FBN1 and mainly classified into 3 types including missense mutations, in-frame deletions, and nonsense mutations due to frameshift
leading to premature termination codons (PTC) [4, 5], even though progresses had been made for the detection of causal mutations in MFS.
The mutation p.A1324D is a missense change leading to an amino acid substitution, and p.Q1337Qfs*22 results in a frameshift
insertion and introduces a stop codon in the MYO15A open reading frame.
Recessive mutations can be missense, which result in the production of a functionally deficient RyR1 protein (loss of function) or hypomorphic mutations (nonsense, frameshift
, and splice), which cause reduction of RYR1 expression (lowering mRNA levels) with marked reduced or absent protein expression.
For example, frameshift
mutation or nonsense mutation may induce syndromic hearing loss.
Herein, we report an SCN patient with a novel homozygous frameshift
mutation in the HAX1 gene in an attempt to improve the diagnosis and management of SCN.