Genotype and phenotype heterogeneity in perrault syndrome.
Genotype and phenotype heterogeneity in perrault syndrome.
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DOI：
10.1016/j.jpag.2012.10.008
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发表时间：
2013-02-01
影响因子：
1.8
通讯作者：
Kim, Yonggoo
中科院分区：
文献类型：
--
作者：
Kim, Min Jeong;Kim, Sa Jin;Kim, Yonggoo
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.
