Deconte Desirée, Correia Elisa Pacheco Estima, Haubert Géssica, de Souza Vinicius, Correia Jamile Dutra, Maahs Marcia Angelica Peter, Zen Paulo Ricardo Gazzola, Fiegenbaum Marilu, Rosa Rafael Fabiano Machado
Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
J Pediatr Genet. 2021 Mar;10(1):63-69. doi: 10.1055/s-0040-1705095. Epub 2020 Feb 28.
Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).
cherubism是一种罕见的遗传性疾病,其特征为骨非肿瘤性疾病。我们旨在报告一名6岁患有cherubism的女孩,其母系家族中有类似病例。然而,她的母亲和祖母似乎没有症状。患者下颌骨肿大且不对称,伴有多个颈部淋巴结肿大,且随时间推移而增大。桑格测序显示,不仅患者,其母亲的第9外显子也存在杂合突变。因此,我们观察到该家族中存在可变表达和可能降低的外显率,以及患者的异常特征(在本例中为下颌骨的不对称受累)。