SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation.
SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation.
复制标题
具有种系杂合 DOCK6 突变和体细胞嵌合 NRAS Q61R 突变的头皮综合征。
DOI：
10.1111/pde.15184
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发表时间：
2023
影响因子：
1.5
通讯作者：
Kiuru,Maija
中科院分区：
文献类型：
--
作者：
Meyer,SummerN;Simmons,ElaneeM;McPherson,JohnD;Awasthi,Smita;Kiuru,Maija
我们报告一例头皮综合征，诊断为男性婴儿皮脂腺痣，中枢神经系统畸形，先天性皮肤发育不全，边缘皮样发育不全，巨大的先天性黑素细胞痣，或色素痣。我们在巨大的先天性黑素细胞痣中发现了一种种系复合杂合（heterozygousdock6）突变和体细胞嵌合体（mosaicNRASQ61R）突变。本报告将提高临床医生对头皮综合征的认识，并增加这一罕见综合征的文献特征，包括其遗传背景。
We present a case of SCALP syndrome, which was diagnosed in a male infant with the characteristic findings of sebaceous nevi, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and giant congenital melanocytic nevi, or pigmented nevi. We identified a germline compound heterozygousDOCK6mutation and a somatic mosaicNRASQ61R mutation in the giant congenital melanocytic nevus. This report will increase clinician awareness of SCALP syndrome and augment the literature in characterizing this rare syndrome, including its genetic background.