A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited...

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Published inZhong nan da xue xue bao. Journal of Central South University. Yi xue ban Vol. 43; no. 7; p. 811
Main Authors Long, Xiaodan, Xiong, Jing, Mo, Zhaohui, Zhang, Qin, Jin, Ping
Format Journal Article
LanguageChinese
Published China 28.07.2018
Subjects
Cafe-au-Lait Spots - diagnosis
Cafe-au-Lait Spots - genetics
Child
Genes, Neurofibromatosis 1
Growth Hormone - deficiency
Humans
Male
Mutation
Neurofibromatosis 1 - blood
Neurofibromatosis 1 - diagnosis
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Summary:Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.
ISSN:1672-7347
DOI:10.11817/j.issn.1672-7347.2018.07.018