AUTHOR=Song Fuying , Feng Shunqiao , Shen Xiang , Du Mu , Yin Hui , Liu Rong , Chen Xiaobo 

TITLE=Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis

JOURNAL=Frontiers in Genetics

VOLUME=Volume 11 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00976

DOI=10.3389/fgene.2020.00976

ISSN=1664-8021

ABSTRACT=Conventionally, patients with combined rare diseases are often hard to diagnosed by the diagnostic routine. This is because in the common thinking model, the multiple disease symptoms are tending to be considered as the presentation of a complicated “syndrome”. This thinking pattern also confine their way of filtering pathogenic mutations. The real pathogenic mutations might be ignored due to not covering all disease presentations. Here we report a case of a girl who was suffered from spherocytosis and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. She remained undiagnosed even after gene detection before. However, after doing the Next-generation sequencing and the analysis of the sequencing data, we identified two mutations, c.2978T>A in ANK1 and mutation c.1370G>A in POR gene. Our findings and experience in the diagnosis could expand the thoughts in clinical and genetic diagnosis of patients with multiple systems involved.