一种具有神经纤维瘤病-努南综合征表型的NF1基因新无义突变。
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
作者信息
Yimenicioğlu Sevgi, Yakut Ayten, Karaer Kadri, Zenker Martin, Ekici Arzu, Carman Kürşat Bora
机构信息
Department of Pediatric Neurology, Osmangazi University Medical Faculty, Eskisehir, Turkey.
出版信息
Childs Nerv Syst. 2012 Dec;28(12):2181-3. doi: 10.1007/s00381-012-1905-7. Epub 2012 Sep 11.
PURPOSE
Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.
METHOD
Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated.
RESULT
Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations.
CONCLUSION
We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.
目的
神经纤维瘤病-努南综合征是一种罕见的常染色体显性疾病，它将1型神经纤维瘤病（NF1）的特征与努南综合征相结合。大多数此类患者中报告有NF1基因突变。
方法
对已确定的努南综合征相关基因进行序列分析，未发现突变；已证实存在一个位于第51外显子的杂合NF1点突变c.7549C>T，产生一个提前终止密码子（p.R2517X）。
结果
神经纤维瘤病-努南综合征最近被认为是NF1的一种亚型，由不同的NF1突变引起。
结论
我们报告了一例14岁患有1型神经纤维瘤病且具有类似努南特征的男孩病例，该男孩主诉头痛伴三脑室积水，且在第51外显子存在杂合NF1点突变c.7549C>T。
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