佩罗综合征的基因型和表型异质性。

Genotype and phenotype heterogeneity in perrault syndrome.

作者信息

Kim Min Jeong, Kim Sa Jin, Kim Jiyeon, Chae Hyojin, Kim Myungshin, Kim Yonggoo

机构信息

Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.

出版信息

J Pediatr Adolesc Gynecol. 2013 Feb;26(1):e25-7. doi: 10.1016/j.jpag.2012.10.008.

DOI:10.1016/j.jpag.2012.10.008

PMID:23332201

Abstract

BACKGROUND

The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous.

CASE

We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. We detected 14 single nucleotide variations including 2 homozygous missense change of c.317G>A (p.Arg106His) and c.1675A>G (p.Ile559Val) in HSD17B4. No significant mutation in HARS2 and PSMC3IP, and gene copy number variant were found as the cause of Perrault syndrome.

SUMMARY AND CONCLUSION

Mutations in HARS2, HSD17B4, and PSMC3IP genes do not explain Perrault syndrome in our patient, indicating that other critical genes remain to be identified.

摘要

背景

佩罗特综合征的特征是进行性感音神经性听力损失和卵巢发育不全，但该疾病在临床和遗传上均具有异质性。

病例

我们报告了一名15岁女孩，患有性腺发育不全、单侧感音神经性耳聋、双眼白内障以及类马凡氏体型比例，被诊断为佩罗特综合征。我们在HSD17B4基因中检测到14个单核苷酸变异，包括2个纯合错义突变，即c.317G>A（p.Arg106His）和c.1675A>G（p.Ile559Val）。未发现HARS2和PSMC3IP基因有显著突变以及基因拷贝数变异是佩罗特综合征的病因。