Toral-López Jaime, González-Huerta Luz M, Martín-Del Campo Mónica, Messina-Baas Olga, Cuevas-Covarrubias Sergio A
Department of Medical Genetics, Centro Médico Ecatepec, Instituto de Seguridad Social del Estado de México y Municipios, México City, México.
Department of Medical Genetics, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, México City, México.
Pediatr Dermatol. 2018 May;35(3):e180-e183. doi: 10.1111/pde.13475. Epub 2018 Mar 23.
The proband in this study was a 4-year-old Mexican girl with Blau syndrome. She and her affected family members had skin rash and arthritis but no uveitis. Exome sequencing and DNA direct sequencing from blood samples revealed a novel nucleotide-binding oligomerization domain-containing protein 2 gene mutation in the affected family members. This study is the first report of a Mexican family with Blau syndrome showing good infliximab treatment response. The novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene (c.1808A>G) enriches the mutation spectrum in Blau syndrome. This family represents one of the few cases of autosomal Blau syndrome with no uveitis; because of phenotype variability, it is important to recognize Blau syndrome's clinical spectrum and recommend genetic consultation.
本研究中的先证者是一名患有布劳综合征的4岁墨西哥女孩。她和她受影响的家庭成员有皮疹和关节炎，但没有葡萄膜炎。对血样进行外显子组测序和DNA直接测序发现，受影响的家庭成员中存在一种新的含核苷酸结合寡聚化结构域蛋白2基因突变。本研究首次报道了一个对英夫利昔单抗治疗反应良好的患有布劳综合征的墨西哥家庭。含核苷酸结合寡聚化结构域蛋白2基因的新突变（c.1808A>G）丰富了布劳综合征的突变谱。这个家庭代表了少数几例无葡萄膜炎的常染色体布劳综合征病例之一；由于表型的变异性，认识布劳综合征的临床谱并建议进行遗传咨询很重要。
