Grange Dorothy K, Clericuzio Carol L, Bayliss Susan J, Berk David R, Heideman Richard L, Higginson Julie K, Julian Stephanie, Lind Anne
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Am J Med Genet A. 2008 Oct 15;146A(20):2589-97. doi: 10.1002/ajmg.a.32503.
Curry-Jones syndrome (OMIM #601707) is a rare multiple malformation disorder of unknown etiology, associated with brain and skull abnormalities, polysyndactyly, and defects of the eyes, skin and gastrointestinal tract. We report on two new cases of Curry-Jones syndrome with previously unreported features, including benign and malignant neoplasms. The first patient had typical features of Curry-Jones syndrome as well as multiple intra-abdominal smooth muscle hamartomas and trichoblastoma of the skin. The second patient was born with occipital meningoceles and developed a desmoplastic medulloblastoma. Routine lymphocyte karyotype, GLI3 gene analysis and Patched (PTCH) gene analysis on both patients and chromosome microarray analysis on the first patient were normal. We review the previously reported cases of Curry-Jones syndrome and compare our patients' findings. In view of the association of trichoblastoma with basal cell carcinoma and desmoplastic medulloblastoma with nevoid basal cell carcinoma syndrome (NBCCS) and PTCH mutations, we hypothesize that Curry-Jones syndrome is caused by malfunction of an element in the sonic hedgehog pathway.
库里-琼斯综合征（OMIM #601707）是一种病因不明的罕见多发畸形疾病，与脑和颅骨异常、多指（趾）畸形以及眼、皮肤和胃肠道缺陷相关。我们报告了两例具有先前未报道特征的库里-琼斯综合征新病例，包括良性和恶性肿瘤。首例患者具有库里-琼斯综合征的典型特征以及多发腹腔内平滑肌错构瘤和皮肤毛母细胞瘤。第二例患者出生时患有枕部脑膜膨出，并发展为促纤维增生性髓母细胞瘤。对两名患者进行的常规淋巴细胞核型分析、GLI3基因分析和patched（PTCH）基因分析以及对首例患者进行的染色体微阵列分析均正常。我们回顾了先前报道的库里-琼斯综合征病例，并比较了我们患者的发现。鉴于毛母细胞瘤与基底细胞癌相关，促纤维增生性髓母细胞瘤与痣样基底细胞癌综合征（NBCCS）及PTCH突变相关，我们推测库里-琼斯综合征是由音猬因子信号通路中某一元件功能异常所致。
