A novel compound heterozygous mutation in MYSM1 gene in a 1-month-old girl: a bone marrow failure syndrome 4 family survey and literature review

To report the clinical manifestations and total exon detection results of one case of MYSM1 gene complex heterozygosity mutation of bone marrow failure syndrome 4 and the results of total exon detection of her family to provide a case phenotype for the early diagnosis of bone marrow failure syndrome...

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Bibliographic Details
Published in:Zhōnghuá xuèyèxué zázhì 2021-02, Vol.42 (2), p.129
Main Authors: Huang, J, Zhan, X Y, Zhao, A L, Wu, B, Yang, Y, Tan, P, Wan, L J, Lu, Y H
Format: Article
Language:Chinese
Subjects:
Bone Marrow Failure Disorders
Child
Exome Sequencing
Female
Heterozygote
Humans
Infant
Mutation
Pedigree
Trans-Activators
Ubiquitin-Specific Proteases
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Summary:To report the clinical manifestations and total exon detection results of one case of MYSM1 gene complex heterozygosity mutation of bone marrow failure syndrome 4 and the results of total exon detection of her family to provide a case phenotype for the early diagnosis of bone marrow failure syndrome 4. A 1-month-old girl with severe anemia was sequenced with trio-WES. Similarly, the family was also sequenced with tribe-WES to confirm the molecular diagnosis. BWA, GATK, and other software were used for annotation analysis of sequencing results. After polymerase chain reaction, Sanger sequencing was performed by ABI3730 sequencer to verify the target sequence. Moreover, the verification results were obtained by the sequence analysis software. The clinical diagnosis of this girl was reported and the relevant pieces of literature were reviewed. The girl presented with pancytopenia, polydactylism, nonspecific white matter changes, and cysts. However, CD3(-)CD19(+) B decreased. The child was identified with MYSM1 c
ISSN:0253-2727
DOI:10.3760/cma.j.issn.0253-2727.2021.02.007