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BMC Pediatrics
Published in: BMC Pediatrics 1/2020

01-12-2020 | Neurofibromatosis | Case report

Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report

Authors: Zhen Zhang, Xin Chen, Rui Zhou, Huaixiang Yin, Jiali Xu

Published in: BMC Pediatrics | Issue 1/2020

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Abstract

Background

Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy.

Case presentation

A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum. Using whole exome sequencing, we identified a de novo heterozygous deletion including exons 1–58 of the NF1 gene.

Conclusion

Although genetic tests are useful tools for diagnosis of NFNS, NF1, or NS, comprehensive analysis of genetic factors and phenotypes is indispensable in the clinical practice. To the best of our knowledge, this case presents the first Chinese NFNS case due to NF1 defects, and the NF1 exons 1–58 deletion-related phenotype is unlike any other reported case.
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Metadata
Title
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report
Authors
Zhen Zhang
Xin Chen
Rui Zhou
Huaixiang Yin
Jiali Xu
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2020
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-020-02102-z

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