Expected outline of paper
Title that I can think of: Whole Exome Sequencing reveals two novel mutation of NBAS gene in a patient/Chinese girl with SOPH syndrome
Patient image, Patient genotype and Patient growth and developmental graph should be included in the case description section
Patient genotype (*Format this table properly)
|Gene||Chromosome location||Gene mutation information||Zygosity||Disease name||Inheritance||ExAC Het/Hom||HGMD
|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
|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
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]
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|
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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