Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

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• 作者：Berta Almoguera (1)
  Sijie He (2) (3)
  Marta Corton (4) (5)
  Patricia Fernandez-San Jose (4) (5)
  Fiona Blanco-Kelly (4) (5)
  Maria Isabel L贸pez-Molina (5) (6)
  Blanca Garc铆a-Sandoval (5) (6)
  Javier del Val (7)
  Yiran Guo (1)
  Lifeng Tian (1)
  Xuanzhu Liu (3)
  Liping Guan (3)
  Rosa J Torres (8)
  Juan G Puig (9)
  Hakon Hakonarson (1)
  Xun Xu (10) (3)
  Brendan Keating (1)
  Carmen Ayuso (4) (5)
  
  1. Center for Applied Genomics ; The Children鈥檚 Hospital of Philadelphia ; Philadelphia ; PA ; 19104 ; USA
  2. College of Life Sciences ; University of Chinese Academy of Sciences ; Beijing ; 100049 ; China
  3. BGI-Shenzhen ; Shenzhen ; 518083 ; China
  4. Department of Genetics and Genomics ; IIS-Fundaci贸n Jim茅nez D铆az University Hospital (IISFJD ; UAM) ; 28040 ; Madrid ; Spain
  5. Center for Biomedical Network Research on Rare Diseases (CIBERER) ; ISCIII ; Madrid ; Spain
  6. Department of Ophthalmology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
  7. Department of Neurology ; Fundaci贸n Jim茅nez D铆az ; 28040 ; Madrid ; Spain
  8. Department of Biochemistry ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
  9. Department of Internal Medicine ; Metabolic-Vascular Unit ; La Paz University Hospital IdiPaz ; Madrid ; 28046 ; Spain
  10. The Guangdong Enterprise Key Laboratory of Human Disease Genomics ; Shenzhen ; China
  
• 关键词：PRPS1 ; Retinitis pigmentosa ; Non ; random X ; chromosome inactivation ; Phosphoribosyl pyrophosphate synthetase deficiency ; Neuropathy
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：9
• 期：1
• 全文大小：1,751 KB
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• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
• 出版者：BioMed Central
• ISSN：1750-1172

文摘

Background Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500). All three are X-linked recessively inherited and males affected display variable degree of central and peripheral neuropathy. We applied whole exome sequencing to a three-generation family with optic atrophy followed by retinitis pigmentosa (RP) in all three cases, and ataxia, progressive peripheral neuropathy and hearing loss with variable presentation. Methods Whole exome sequencing was performed in two affecteds and one unaffected member of the family. Sanger sequencing was used to validate and segregate the 12 candidate mutations in the family and to confirm the absence of the novel variant in PRPS1 in 191 controls. The pathogenic role of the novel mutation in PRPS1 was assessed in silico and confirmed by enzymatic determination of PRS activity, mRNA expression and sequencing, and X-chromosome inactivation. Results A novel missense mutation was identified in PRPS1 in the affected females. Age of onset, presentation and severity of the phenotype are highly variable in the family: both the proband and her mother have neurological and ophthalmological symptoms, whereas the phenotype of the affected sister is milder and currently confined to the eye. Moreover, only the proband displayed a complete lack of expression of the wild type allele in leukocytes that seems to correlate with the degree of PRS deficiency and the severity of the phenotype. Interestingly, optic atrophy and RP are the only common manifestations to all three females and the only phenotype correlating with the degree of enzyme deficiency. Conclusions These results are in line with recent evidence of the existence of intermediate phenotypes in PRS-I deficiency syndromes and demonstrate that females can exhibit a disease phenotype as severe and complex as their male counterparts.