Abstract:
:We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M). RNA-based sequence analysis confirmed the absence of nonsense-mediated decay and the presence of the mutant transcripts in Epstein-Barr virus-transformed lymphoblastoid cells of our patient. His clinical findings included early onset of polyneuropathy, loss of muscle mass with distal pareses, hammer toes, and progressive scoliosis. There was no neuropsychological alteration. Our results suggest that the deletion c.281delG alone is responsible for the severe CMT phenotype. To the best of our knowledge, this is the second report on a proven paternal origin of a de novo single-base mutation in the PMP22 gene.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Niedrist D,Joncourt F,Mátyás G,Müller Adoi
10.1111/j.1399-0004.2008.01120.xsubject
Has Abstractpub_date
2009-03-01 00:00:00pages
286-9issue
3eissn
0009-9163issn
1399-0004pii
CGE1120journal_volume
75pub_type
杂志文章abstract::During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of th...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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doi:
更新日期:1981-08-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1111/cge.13532
更新日期:2019-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1989.tb02959.x
更新日期:1989-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02617.x
更新日期:1988-07-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/cge.12646
更新日期:2016-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2016-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03527.x
更新日期:1990-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1981-07-01 00:00:00
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pub_type: 杂志文章
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更新日期:2018-08-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2008-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03030.x
更新日期:1991-04-01 00:00:00
abstract::The codominant expression of three HLA haplotypes was found in a healthy 21-year-old Black male, whose prometaphase karyotype was normal by light microscopy. He was the sibling of an antenatally diagnosed female fetus with a partial duplication of 6p. The duplication arose from a complex presumably balanced maternal c...
journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1986.tb00772.x
更新日期:1986-01-01 00:00:00
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doi:10.1111/j.1399-0004.1997.tb02409.x
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02800.x
更新日期:1987-04-01 00:00:00