CLINICAL VARIABILITY OF TYPE-1 NEUROFIBROMATOSIS - IS THERE A NEUROFIBROMATOSIS-NOONAN SYNDROME
CLINICAL VARIABILITY OF TYPE-1 NEUROFIBROMATOSIS - IS THERE A NEUROFIBROMATOSIS-NOONAN SYNDROME
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DOI：
10.1136/jmg.29.3.184
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发表时间：
1992-03-01
影响因子：
4
通讯作者：
BARKER, DF
中科院分区：
文献类型：
--
作者：
STERN, HJ;SAAL, HM;BARKER, DF
详细的临床，眼科，和分子研究进行了多代家庭中，有许多受试者与1型神经纤维瘤病，一种常见的常染色体显性遗传病。受影响的家庭成员表现出广泛的临床表现，包括在两名受试者中观察到的努南综合征特征（三角形面容、向下倾斜的睑裂、小颌、身材矮小和学习障碍）。先前已经描述了其特征与神经纤维瘤病和努南综合征重叠的受试者，并建议这些人可能代表一种单独的疾病。DNA单倍型分析表明，在这个家庭中看到的连锁的神经纤维瘤病表型的近端长臂的17号染色体的1型神经纤维瘤病基因已被映射的区域。这些结果表明，努南表型中看到的一些患者1型神经纤维瘤病可能是可变的或变异表达的神经纤维瘤病基因的17号染色体上的结果。非特异性因素，如胎儿张力减退，在产生神经纤维瘤病努南表型中的可能作用需要进一步研究。神经纤维瘤病的紧密连锁和基因内分子标记的可用性可能是有用的诊断和非典型形式的神经纤维瘤病的患者和家庭的特点。
Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, micrognathia, short stature, and learning disability). Subjects have been described previously whose features have overlapped with neurofibromatosis and Noonan syndrome, and it has been suggested that these persons might represent a separate condition. DNA haplotype analysis showed linkage of the neurofibromatosis phenotype seen in this family to the proximal long arm of chromosome 17 in the region where the type 1 neurofibromatosis gene has been mapped. These results imply that the Noonan phenotype seen in some patients with type 1 neurofibromatosis might be the result of variable or variant expression of the neurofibromatosis gene on chromosome 17. The possible role of non-specific factors, such as fetal hypotonia, in producing the neurofibromatosis-Noonan phenotype needs further investigation. The availability of closely linked and intragenic molecular markers for neurofibromatosis could potentially be useful in the diagnosis and characterisation of patients and families with atypical forms of neurofibromatosis.