We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report.
- Authors
Si Qin; Yindi Zhang; Fadong Yu; Yinxing Ni; Jian Zhong
- Abstract
Neurofibromatosis-Noonan syndrome (NFNS), a rare autosomal-dominant hereditary disease, is characterized by clinical manifestations of both neurofibromatosis type 1 (NF1) and NS. We present a case of NFNS with short stature caused by a heterozygous nonsense variant of the NF1 gene. A 12-year-old boy was admitted because of short stature, numerous café-au-lait spots, low-set and posteriorly rotated ears, sparse eyebrows, broad forehead, and inverted triangular face. Cranial and spinal magnetic resonance imaging showed abnormal nodular lesions. Molecular analysis revealed a novel heterozygous c.6189 C > G (p.(Tyr2063*)) variant in the NF1 gene. The patient was not prescribed recombinant growth hormone (GH) therapy because exogenous GH may have enlarged the abnormal skeletal lesions. During follow-up, Lisch nodules were found in the ophthalmologic examination. NFNS, a variant form of NF1, is caused by heterozygous mutations in the NF1 gene. The mechanism of GH deficiency caused by NF1 is still unclear. Whether NFNS patients should be treated with exogenous GH remains controversial.
- Subjects
STATURE; PHYSICAL diagnosis; GENETIC mutation; NOONAN syndrome; MAGNETIC resonance imaging; HUMAN growth hormone; MATHEMATICAL variables; EYEBROWS; NEUROFIBROMATOSIS 1; GROWTH disorders; RARE diseases; PHENOTYPES
- Publication
Journal of Clinical Research in Pediatric Endocrinology, 2023, Vol 15, Issue 4, p438
- ISSN
1308-5727
- Publication type
Article
- DOI
10.4274/jcrpe.galenos.2022.2021-12-24