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 


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


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


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



  Study NBAS mutation Exons affected Notable clinical features Notable Investigations Management / Treatment Outcome / Prognosis
1. Our study            


  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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