Whole Exome Sequencing

Expected outline of paper

 

  1. Title – think of a good title

Title that I can think of: Whole Exome Sequencing reveals two novel mutation of NBAS gene in a patient/Chinese girl with SOPH syndrome

 

  1. Abstract – 8 keywords
  2. Introduction
  3. Case description

 

Patient image, Patient genotype and Patient growth and developmental graph should be included in the case description section

Patient image

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Patient genotype (*Format this table properly)

Gene Chromosome location Gene mutation information Zygosity Disease name Inheritance ExAC Het/Hom HGMD 

classification

Source variation
NBAS chr2:15417230 NM_015909:exon43:c.5139-5T>G Heterozygous Infantile liver failure syndrome 2, [MIM:616483]; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, [MIM:614800] Autosomal

Recessive

0|0 Paternal
NBAS chr2:15601463 NM_015909:exon21:c.2203-2A>G Heterozygous Infantile liver failure syndrome 2, [MIM:616483]; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, [MIM:614800] Autosomal

Recessive

0|0 Maternal

 

 

 

 

Patient growth and developmental graph

Evaluation of results [Date: 2018.8.23]:

Height: 107.10 cm [< -3 SDs]; Weight: 15.80 kg [< -3 SDs]; BMI: 13.77kg/m2  [< -1 SDs]

 

 

 

 

 

 

 

 

  1. Discussion

The following figure and table must be included in the discussion section

Figure

Table

  Study NBAS mutation Exons affected Notable clinical features Notable Investigations Management / Treatment Outcome / Prognosis
1. Our study            
2.              
3.              
4.              
5.              
6.              
7.              
8.              
9.              
10.              
11.              
12.              
13.              

 

  1. Conclusion

Please add this sentence in the conclusion “ we support the proposal where the disease should be named SOPHIA instead of SOPH because of ……………………….”  – please word it better and cite it. I am inspired by the literature shown below and would like to support it.

 

2020, Yves Lacassie, Severe SOPH due to novel NBAS mutation in 27yo woman – Review of this pleiotropic, autosomal recessive disorder; mystery solved after two decades

 

References – around 30, Vancouver style referencing, pubmed indexed

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