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

作者全名："Qin, Si; Zhang, Yindi; Yu, Fadong; Ni, Yinxing; Zhong, Jian"

作者地址："[Qin, Si; Zhang, Yindi; Yu, Fadong; Ni, Yinxing; Zhong, Jian] Chongqing Med Univ, Affiliated Hosp 3, Dept Endocrinol, Chongqing, Peoples R China"

通信作者："Ni, YX; Zhong, J (通讯作者)，Chongqing Med Univ, Affiliated Hosp 3, Dept Endocrinol, Chongqing, Peoples R China."

来源：JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001112798100015

JCR分区：Q2

影响因子：1.5

年份：2023

卷号：15

期号：4

开始页：438

结束页：443

文献类型：Article

关键词：Neurofibromatosis-Noonan syndrome; growth hormone deficiency; NF1 gene

摘要："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 cafe-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."

基金机构：National Natural Science Foundation of China [81670382]; Sports Scientific Research Project of Chongqing Municipality [B201710]; Research Incubation Project of the Third Affiliated Hospital of Chongqing Medical University [KY20075]

基金资助正文："This work was supported by the National Natural Science Foundation of China [grant no. 81670382] , the ""Sports Scientific Research Project"" of Chongqing Municipality [grant no. B201710] , and the ""Research Incubation Project"" of the Third Affiliated Hospital of Chongqing Medical University [grant no. KY20075] . The funding bodies had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript."