The mutation likely induce the growth-regulatory pathway. There

 

The  3M 
syndrome  is  causally 
linked  with  the 
mutations on the genes CUL7, 
OBSL1 , and  CCDC8 . (21). The Most
of the Mutation types reported  for 3M  syndrome 
appearing on the 8 exons that  encoding Ig domains of OBSL1   proteins (22). (23). In our case, on the
other hand, we detected that a novel nonsense mutation on OBSL1 gene is
the cause of 3M syndrome. New studies about of OBSL1 gene and protein suggested
that the OBSL1 protein functions in   cytoskeletal
adaptor. This protein linking the nuclear proteins to the cytoplasmic support
network. Additionally, other studies showed function as a scaffold protein.(24)Postulated
that this would be to stabilize the cytoskeletal network or act as a scaffold
for signaling complexes with a proposal that disruption of OBSL1 would cause
either skeletal or cardiac myopathy (27).Additionaly, IGFBP-2 and IGFB5 messenger ribonucleic
acid levels collaborated with OBSL1 mutations in 3M syndrome (25).(26).
In our current investigation, c.842G>A mutation likely induce the growth-regulatory pathway.
There is no specific treatment for 3M syndrome (28). However, some researchers
suggested
using of human growth hormone (GH) for treatment. This mutation was identified
using the targeted NGS method and were confirmed by Sanger sequencing, on OBSL1
gene, where reported as MSBN
-causing
mutation, that were not previously reported in the Iranian population.The
clinical assessment for short stature is most important symptom to 3M diagnosis.
However, the 3M syndrome can identify via differential diagnosis like with mild
symptomatology and wide variety of causal factors.

Therefore, the molecular diagnosis has
useful and important implications for the family. Once a mutation was found in
the proband, carrier determination should be performed for other related
asymptomatic family members. Unfortunately, family members of the proband were
not available for segregation analysis.

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Due to the fact that 3M syndrome is
inherited via an autosomal recessive pattern, early genetic

assessment  leading 
to  an  early 
diagnosis  can  also 
aid  in the  genetic 
counselling  for  the 
rest  of  family 
members. In  conclusion,  3M 
syndrome  needs  to 
be  considered  in the 
differential  diagnosis  of 
patients  with  growth 
failure, especially  those  with 
prenatal  onset  and 
characteristic symptoms.It is therefore concluded that NGS is an
excellent method to determine all types of disease causing and novel mutations
on 3M gene. With NGS we are able to determine deletions, duplications and small
mutations which can cause 3M syndrome in single experiment assay. The
development of genetics and the availability of high throughput screening technology
provide a great opportunity to identify gene variants that may explain disease
phenotypes. This report is the first study to screen for mutations in 3-M
syndrome genes in clinically diagnosed patients from Iran. It confirms the
genetic heterogeneity of 3-M syndrome in Iran, and shows the importance of
using NGS genetic testing to confirm the diagnosis.   

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