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Tytuł:
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Perrault syndrome: Clinical report and retrospective analysis.
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Autorzy:
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Pan Z; Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Xu H; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou, China.
Tian Y; BGI College, Zhengzhou University, Zhengzhou, China.; Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China.
Liu D; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou, China.
Liu H; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou, China.
Li R; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou, China.
Dou Q; Reproductive Medical Center, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Zuo B; Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Zhai R; Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Tang W; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Zhengzhou, China.; Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China.; Department of Otorhinolaryngology, Head and Neck Surgery, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Lu W; Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
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Źródło:
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Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1445. Date of Electronic Publication: 2020 Aug 07.
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Typ publikacji:
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Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
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MeSH Terms:
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Amino Acyl-tRNA Synthetases/*genetics
Gonadal Dysgenesis, 46,XX/*genetics
Hearing Loss, Sensorineural/*genetics
Female ; Gonadal Dysgenesis, 46,XX/pathology ; Hearing Loss, Sensorineural/pathology ; Heterozygote ; Humans ; Mutation, Missense ; Phenotype ; Young Adult
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References:
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Contributed Indexing:
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Keywords: LARS2; Perrault syndrome; premature ovarian insufficiency; sensorineural hearing loss
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Substance Nomenclature:
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EC 6.1.1.- (Amino Acyl-tRNA Synthetases)
EC 6.1.1.4 (LARS2 protein, human)
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SCR Disease Name:
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Gonadal dysgenesis XX type deafness
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Entry Date(s):
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Date Created: 20200809 Date Completed: 20210531 Latest Revision: 20210531
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Update Code:
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20240105
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PubMed Central ID:
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PMC7549576
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DOI:
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10.1002/mgg3.1445
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PMID:
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32767731
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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.
(© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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