期刊
OPHTHALMIC GENETICS
卷 39, 期 3, 页码 396-398出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2018.1443342
关键词
Microcephaly; coloboma; Xp deletion; exudative vitreo-retinopathy
The constellation of signs including microcephaly, retinal colobomas, and exudative vitreo-retinopathy suggests a mutation of the KIF-11 gene on chromosome 10q. We report a female infant with these features but due, instead, to a contiguous gene deletion on chromosome Xp including the OMIM morbid genes CASK, KDM6A, NDP, MAOA, NYX, and DDX3X. The NDP deletion could account for the exudative retinopathy and the CASK deletion for the microcephaly, while CASK and KDM6A have both been associated with coloboma. This case highlights genetic heterogeneity for the clustering of these signs.
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