Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss

Konovalova S, Tyynismaa H (2013) Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 108:206–211. https://doi.org/10.1016/j.ymgme.2013.01.010

Article  PubMed  Google Scholar 

Zhou W, Feng XL, Li H, Wang L, Zhu B, Liu WD et al (2009) Inactivation of, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma. Acta Bioch Bioph Sin 41:54–62. https://doi.org/10.1093/abbs/gmn006

Article  Google Scholar 

Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM (2004) Perrault syndrome: Evidence for progressive nervous system involvement. Am J Med Genet A 128a:246–249. https://doi.org/10.1002/ajmg.a.20616

Article  PubMed  Google Scholar 

Faridi R, Rea A, Fenollar-Ferrer C, O’Keefe RT, Gu SJ, Munir Z et al (2022) New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet 141:805–819. https://doi.org/10.1007/s00439-021-02319-7

Article  PubMed  Google Scholar 

Kosaki R, Horikawa R, Fujii E, Kosaki K (2018) Biallelic mutations in can cause Perrault syndrome type 2 with neurologic symptoms. Am J Med Genet A 176:404–408. https://doi.org/10.1002/ajmg.a.38552

Article  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C et al (2016) An application of NGS for molecular investigations in Perrault Syndrome: study of 14 families and review of the literature. Hum Mutat 37:1354–1362. https://doi.org/10.1002/humu.23120

Article  PubMed  Google Scholar 

Zerkaoui M, Demain LAM, Jaouad IC, Ratbi I, Amjoud K, Urquhart JE et al (2017) Marfanoid habitus is a nonspecific feature of Perrault syndrome. Clin Dysmorphol 26:200–204. https://doi.org/10.1097/Mcd.0000000000000198

Article  PubMed  Google Scholar 

Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI et al (2020) The expanding phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Hum Mutat 41:1425–1434. https://doi.org/10.1002/humu.24050

Article  PubMed  Google Scholar 

Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L et al (2023) variants can present as premature ovarian insufficiency in the absence of overt hearing loss. Eur J Hum Genet 31:453–460. https://doi.org/10.1038/s41431-022-01252-1

Article  PubMed  Google Scholar 

Faridi R, Rea A, Fenollar-Ferrer C, O’Keefe RT, Gu S, Munir Z et al (2021) New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet 141:805–819. https://doi.org/10.1007/s00439-021-02319-7

Article  PubMed  PubMed Central  Google Scholar 

Jenkinson Emma M, RehmanAtteeq U, Walsh T, Clayton-Smith J, Lee K, Morell Robert J et al (2013) Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92:605–613. https://doi.org/10.1016/j.ajhg.2013.02.013

Article  PubMed  PubMed Central  Google Scholar 

Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H et al (2020) GGPS1 mutations cause muscular dystrophy/hearing loss/ovarian insufficiency syndrome. Ann Neurol 88:332–347. https://doi.org/10.1002/ana.25772

Article  PubMed  PubMed Central  Google Scholar 

Ołdak M, Oziębło D, Pollak A, Stępniak I, Lazniewski M, Lechowicz U et al (2017) Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. J Transl Med 15:25–38. https://doi.org/10.1186/s12967-017-1129-4

Article  PubMed  PubMed Central  Google Scholar 

Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G et al (2020) A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? Ann Hum Genet 84:417–422. https://doi.org/10.1111/ahg.12384

Article  PubMed  Google Scholar 

Li MH, Popovic N, Wang Y, Chen CB, Polychronakos C (2023) Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity. Rev Endocr Metab Dis 24:673–684. https://doi.org/10.1007/s11154-023-09809-1

Article  Google Scholar 

Eshraghi AA, Polineni SP, Davies C, Shahal D, Mittal J, Al-Zaghal Z et al (2020) Genotype-phenotype correlation for predicting cochlear implant outcome: Current challenges and opportunities. Front Genet 11:678. https://doi.org/10.3389/fgene.2020.00678

Article  PubMed  PubMed Central  Google Scholar 

Shearer AE, Hansen MR (2019) Auditory synaptopathy, auditory neuropathy, and cochlear implantation. Laryngoscope Invest 4:429–440. https://doi.org/10.1002/lio2.288

Article  Google Scholar 

van Knaap der, M S, M Bugiani et al (2019) Biallelic variants in LARS2 and KARS cause deafness and (ovario) leukodystrophy. Neurology 92:E1225–E1237. https://doi.org/10.1212/Wnl.0000000000007098

Article  PubMed  PubMed Central  Google Scholar 

Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H et al (2020) Perrault syndrome: a new case report and literature review. Bmc Med Genet 21:109. https://doi.org/10.1186/s12881-020-01028-8

Article  PubMed  PubMed Central  Google Scholar 

Soldà G, Caccia S, Robusto M, Chiereghin C, Castorina P, Ambrosetti U et al (2016) First independent replication of the involvement of in Perrault syndrome by whole-exome sequencing of an Italian family. J Hum Genet 61:295–300. https://doi.org/10.1038/jhg.2015.149

Article  PubMed  Google Scholar 

Gu SJ, Olszewski R, Taukulis I, Wei Z, Martin D, Morell RJ, Hoa M (2020) Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea. Sci Rep-Uk 10:18100. https://doi.org/10.1038/s41598-020-75238-8

Article  Google Scholar 

Webber L, Davies M, Anderson R, Bartlett J, Braat D, Cartwright B et al (2016) ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod 31:926–937. https://doi.org/10.1093/humrep/dew027

Article  PubMed  Google Scholar 

Pinsker JE (2012) Turner syndrome: updating the paradigm of clinical care. J Clin Endocr Metab 97:E994–E1003. https://doi.org/10.1210/jc.2012-1245

Article  PubMed  Google Scholar 

Bondy CA, Grp TSS (2007) Clinical practice guideline - Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocr Metab 92:10–25. https://doi.org/10.1210/jc.2006-1374

Article  PubMed  Google Scholar 

留言 (0)

沒有登入
gif