Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
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DOI：
10.1016/j.jaad.2009.09.042
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发表时间：
2010-09
影响因子：
13.8
通讯作者：
Theos, Amy
中科院分区：
文献类型：
--
作者：
Boyd, Kevin P.;Gao, Liyan;Feng, Rui;Beasley, Mark;Messiaen, Ludwine;Korf, Bruce R.;Theos, Amy
关键词：
NF1 中的咖啡斑 (CALM) 是 NF1 中一种早期且容易发现的表型，但尚未得到广泛研究。更全面地表征 NF1 患者 CALM 的表型。 24 名通过临床诊断或分子遗传学检测确诊为 NF1 的患者是从阿拉巴马大学伯明翰分校遗传学系就诊的患者中招募的。 CALM 位置是使用标准数码摄影绘制的。使用窄带分光光度计测量色素强度，根据其对可见光的吸收来估计黑色素 (M) 的相对量。主要反应定义为 CALM 的平均 M 与周围皮肤的平均 M 之间的差异。将每个点的主要反应与个体内以及研究群体中个体之间的点进行比较。主要反应存在显着差异，主要归因于个人内部差异（48.4％，<0.0001），其次归因于人际差异（33.0％，<0.0094）。基于基因突变类型的后续分析显示，在具有种系突变的个体中，斑点明显变深，导致单倍体不足。该研究是针对一小部分患者进行的，所采用的方法尚未广泛用于此目的。 CALM 的色素强度不仅在个体之间存在差异，而且在个体内部也存在差异，并且这种差异与阳光照射无关。进一步的研究可能有助于阐明这一发现的分子基础，从而加深对 NF1 中 CALM 发病机制的了解。
Cafe-au-lait macules (CALMs) in NF1 are an early and accessible phenotype in NF1, but have not been extensively studied. To more fully characterize the phenotype of CALMs in patients with NF1. Twenty-four patients with a diagnosis of NF1 confirmed through clinical diagnosis or molecular genetic testing were recruited from patients seen in the Genetics Department at the University of Alabama at Birmingham. CALM locations were mapped using standard digital photography. Pigment intensity was measured with a narrowband spectrophotometer, which estimates the relative amount of melanin (M) based on its absorption of visible light. The major response was defined as the difference between the mean M from the CALM and the mean M from the surrounding skin. The major response for each spot was compared to spots within an individual and across individuals in the study population. There was significant variability of the major response, primarily attributable to intrapersonal variability (48.4%, <0.0001) and secondly to interpersonal variability (33.0%, <0.0094). Subsequent analysis based on genetic mutation type showed significantly darker spots in individuals with germline mutations leading to haploinsufficiency. The study was performed on a small population of patients and the method utilized has not yet been used extensively for this purpose. CALMs vary in pigment intensity not only across individuals, but also within individuals and this variability was unrelated to sun exposure. Further studies may help elucidate the molecular basis of this finding, leading to an increased understanding of the pathogenesis of CALMs in NF1.
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影响因子：
3.9
作者：
Maertens, Ophelia;Brems, Hilde;Messiaen, Ludwine
通讯作者：
Messiaen, Ludwine
影响因子：
9.8
作者：
Maertens, Ophelia;De Schepper, Sofie;Messiaen, Ludwine
通讯作者：
Messiaen, Ludwine
影响因子：
2.2
作者：
TAKAHASHI, M
通讯作者：
TAKAHASHI, M
影响因子：
4
作者：
Diwakar, Ganesh;Zhang, Deming;Hornyak, Thomas J.
通讯作者：
Hornyak, Thomas J.
影响因子：
--
作者：
BENEDICT, PH;SZABO, G;SINESI, SJ
通讯作者：
SINESI, SJ