A clinico-genetic study of renal coloboma syndrome in children

被引:33
作者
Cheong, Hae Il
Cho, Hee Yeon
Kim, Jeong Hun
Yu, Young Suk
Ha, Il Soo
Choi, Yong
机构
[1] Seoul Natl Univ, Childrens Hosp, Dept Pediat, Seoul 110744, South Korea
[2] Gachon Univ Med & Sci, Dept Pediat, Gil Med Ctr, Inchon, South Korea
[3] Seoul Natl Univ Hosp, Seoul Natl Univ Coll Med, Dept Ophthalmol, Clin Res Inst, Seoul 110744, South Korea
[4] Seoul Natl Univ Hosp, Seoul Artificial Eye Ctr, Clin Res Inst, Seoul 110744, South Korea
关键词
renal coloboma syndrome; PAX2; gene; vesicoureteral reflux; germline mosaicism;
D O I
10.1007/s00467-007-0525-z
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Renal coloboma syndrome (RCS) is an autosomal dominant disorder caused by PAX2 gene mutations and characterized by renal hypoplasia and optic disc coloboma. The clinical findings were retrospectively reviewed, and all coding regions of the PAX2 gene were sequenced, in six children with RCS. A c.619_620insG mutation was detected in five patients, including two siblings, and a novel p.Arg104X mutation was detected in one patient. All the patients had progressive renal dysfunction and bilateral hypoplastic kidneys without vesicoureteral reflux (VUR), but the rate of progression to end-stage renal disease showed some diversity. The ocular manifestations showed wide variability, ranging from subtle optic disc anomalies to microphthalmia. In one family with two affected siblings, maternal germline mosaicism was suggested by an intragenic microsatellite marker study. In conclusion, there are variable renal and ocular manifestations in RCS without significant phenotype-genotype correlations. VUR is not a cardinal renal manifestation of RCS. The possibility of germline mosaicism should be considered during molecular diagnosis and genetic counseling for PAX2 mutations.
引用
收藏
页码:1283 / 1289
页数:7
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