Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 993-995, 2019.
Article
de Zh
| WPRIM
| ID: wpr-776760
Bibliothèque responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a pedigree affected with tricho-rhino-phalangeal syndrome.@*METHODS@#Next-generation sequencing (NGS) using a gene panel for hereditary osteopathies was carried out for the proband. Suspected mutation was validated in the proband and her parents by Sanger sequencing.@*RESULTS@#A heterozygous frameshift variation c.1995dupA (p.Gly666Argfs*20) of the TRPS1 gene was detected in the proband but not in her parents.@*CONCLUSION@#The novel c.1995dupA (p.Gly666Argfs*20) mutation of the TRPS1 gene probably underlies the disease in the proband.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
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Malformations
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Facteurs de transcription
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Syndrome de Langer-Giedion
/
Nez
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Mutation avec décalage du cadre de lecture
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Protéines de liaison à l'ADN
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Doigts
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Génétique
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Maladies du système pileux
Limites du sujet:
Female
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Humans
langue:
Zh
Texte intégral:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Année:
2019
Type:
Article