Abstract
BackgroundNeurofibromatosis-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 presentationA 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.ConclusionAlthough 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.
Highlights
ConclusionGenetic tests are useful tools for diagnosis of Neurofibromatosis-Noonan syndrome (NFNS), Neurofibromatosis type 1 (NF1), or NS, comprehensive analysis of genetic factors and phenotypes is indispensable in the clinical practice
Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease
Conclusion: genetic tests are useful tools for diagnosis of NFNS, Neurofibromatosis type 1 (NF1), or NS, comprehensive analysis of genetic factors and phenotypes is indispensable in the clinical practice
Summary
This is, as far as we know, the first documented Chinese NFNS case [19], which may indicate the underestimated relevance of NFNS in Chinese patients with NS or NSlike disorders, as known as RASopathies. Genetic test is powerful tool for differential diagnosis in RASopathies patients, meticulous identification of symptoms and signs and a comprehensive analysis are critical in clinical practice. Based on the findings in our patient with novel NF1 exons 1–58 deletion, it suggests a new genotype-phenotype relationship remained to be clarified by further research
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