Posterior amorphous corneal dystrophy caused by a de novo deletion

被引：4

作者：

Odent, S. ^{[1
]}

Casteels, I. ^{[1
]}

Cassiman, C. ^{[1
]}

Dieltiens, M. ^{[1
]}

Hua, M. -T. ^{[1
]}

Devriendt, K. ^{[2
]}

机构：

[1] KU Leuven Univ Leuven, Dept Ophthalmol, Kapucijnenvoer 33, B-3000 Leuven, Belgium

[2] KU Leuven Univ Leuven, Dept Genet, Leuven, Belgium

来源：

OPHTHALMIC GENETICS | 2017年 / 38卷 / 02期

关键词：

Chromosome; 12; de novo deletion; pediatric ophthalmology; posterior amorphous corneal dystrophy; small leucine-rich proteoglycans; STROMAL DYSTROPHY; DECORIN GENE; MUTATION; THICKNESS; PLANA; NEWBORNS; FAMILY; KERATOCAN; CHILDREN; KERA;

D O I：

10.3109/13816810.2016.1164194

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a newborn diagnosed with posterior amorphous corneal dystrophy (PACD). PACD is a rare disorder with partial or complete posterior lamellar corneal opacification. Genetic screening showed a deletion of chromosome 12q21.33-q22 containing the identified four small leucine-rich proteoglycans (SLRP's) associated with this particular dystrophy. Neither parents were carrier of the deletion. To our knowledge, this is the first report of a de novo mutation causing PACD.

引用

页码：167 / 170

页数：4

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