Yimenicioğlu Sevgi, Yakut Ayten, Karaer Kadri, Zenker Martin, Ekici Arzu, Carman Kürşat Bora
Department of Pediatric Neurology, Osmangazi University Medical Faculty, Eskisehir, Turkey.
Childs Nerv Syst. 2012 Dec;28(12):2181-3. doi: 10.1007/s00381-012-1905-7. Epub 2012 Sep 11.
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.
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.
Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations.
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.
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。
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）。
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。
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。
Zotero 插件