Open AccessPerrault syndrome: Clinical report and retrospective analysis
Author(s) -
Pan Zhaoyu,
Xu Hongen,
Tian Yongan,
Liu Danhua,
Liu Huanfei,
Li Ruijun,
Dou Qian,
Zuo Bin,
Zhai Rongqun,
Tang Wenxue,
Lu Wei
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1445
Subject(s) - missense mutation , medicine , hearing loss , sensorineural hearing loss , exome sequencing , genetic counseling , phenotype , genetic testing , genetics , mutation , genotype phenotype distinction , bioinformatics , gene , biology , audiology
Background Perrault syndrome (PRLTS4; OMIM# 615300) is a rare autosomal recessive disorder and only a few cases have been reported worldwide. We report a Chinese female characterized by sensorineural hearing loss and premature ovarian insufficiency. Methods We evaluated audiological, endocrine, and ultrasound examinations and examined the genetic causes using whole‐exome sequencing. We reviewed the literature to discuss the pathogenesis, genotype–phenotype correlation, treatment, and prevention of PRLTS4. Results Bioinformatic analysis revealed compound heterozygous mutations in the LARS2 gene, c.880G>A (p.Glu294Lys), and c.2108T>C (p.Ile703Thr) which is a novel missense mutation, co‐segregated in this family. Taken together, the patient was clinically diagnosed as PRLTS4. The literature review showed that the phenotype for PRLTS4 varies widely, but the sensorineural hearing loss, increased gonadotropin levels, and amenorrhea occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there is a mutation hotspot for PRLTS4. Conclusion This study expanded the mutation spectrum of LARS2 and is the first report of PRLTS4 in a Chinese family. Genetic testing plays an important role in early diagnosis of syndromic deafness and clinical genetic evaluation is essential to guide prevention.