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Case Reports
. 2020 May 1;20(1):190.
doi: 10.1186/s12887-020-02102-z.

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

Zhen Zhang  1 , Xin Chen  2 , Rui Zhou  1 , Huaixiang Yin  1 , Jiali Xu  3
Affiliations
Case Reports

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

Zhen Zhang et al. BMC Pediatr. .

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.

Keywords: Case report; Deletion; Heterozygous; Neurofibromatosis type 1; Noonan syndrome.

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Conflict of interest statement

All authors declare that they have no any conflict of interests.

Figures

Fig. 1
Fig. 1
a-b Café-au-lait spots on the skin. c Unusual face, with widely-spaced eyes and left blepharoptosis. d Pectus excavatum. e-f Cranial MRI showing lesions with high signal intensity on T2FLAIR in basal ganglia and cerebellum
Fig. 2
Fig. 2
Top 10 diseases screened using online tool, Phenotype Profile Search, The Monarch Initiative. The analysis can be performed on page https://monarchinitiative.org/analyze/phenotypes
Fig. 3
Fig. 3
Detection of exons 1–58 of the NF I gene in the proband and his parents. The results showed that the ratio of the copy number of exons 1–58 of the NF I gene in the proband to the normal control was about 0.5, indicating that there was a heterozygous deletion of exons 1–58 of the NF I gene. The ratio of the copy number of exons 1–58 of the NF I gene in the proband’s parents to the normal control was about 1, indicating that the copy number of exons 1–58 of the NF I gene in the proband’s parents was normal
See this image and copyright information in PMC

References

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