A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report.

Neurofibromatosis-Noonan syndrome (NFNS), a rare autosomal dominant hereditary disease, shows the manifestations of both neurofibromatosis type 1 () and Noonan syndrome. We present a case of NFNS with short stature due to the heterozygous nonsense variant of the gene. A 12-year-old boy was admitted for short stature, numerous café-au-lait spots, low-set and posteriorly rotated ears, sparse eyebrows, broad forehead and inverted triangular face, and nodular abnormal lesions revealed by cranial and spine magnetic resonance imaging. A novel heterozygous c.6189C > G (p.Tyr2063*) variant in gene was identified by the molecular analysis. Because exogenous growth hormone (GH) may enlarge nodular abnormal lesions, the patient did not receive GH treatment. During the follow-up, Lisch nodules were found in ophthalmologic examination. NFNS, a variant form of , is caused by heterozygous mutations in the gene. The mechanism of GH deficiency caused by is still unclear. Whether NFNS patients should be treated with exogenous GH is still controversial.