Phenotype and genetic variant analysis of seven pedigrees affected with blepharophimosis syndrome / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 1060-1063, 2021.
Article
de Zh
| WPRIM
| ID: wpr-921997
Bibliothèque responsable:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the clinical manifestations and gene variants of patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).@*METHODS@#Clinical data of 7 pedigrees affected with BPES were collected, and genomic DNA was extracted from peripheral blood samples of the probands and their relatives. All exons of the FOXL2 gene were subjected to Sanger sequencing. Those with negative findings were further screened by targeted capture and next generation sequencing (NGS) and microarray analysis. Pathogenicity of candidate variants were predicted by search of PubMed and related databases, and the impact of the variants was interpreted by protein prediction software. Diagnosis was confirmed by clinical phenotype, medical history and mutation analysis.@*RESULTS@#A pathogenic variant was identified in six of the 7 pedigrees, which included four known pathogenic variants and one novel FOXL2 c.299dupA variant. A heterozygous 3q22.3q23 deletion, which encompassed the FOXL2 gene, was identified in another pedigree.As predicted, the c.299dupA frameshift mutation of FOXL2 gene can lead to the premature termination of protein translation, which is pathogenic.@*CONCLUSION@#A novel and 5 known pathogenic variants have been identified in six pedigrees affected with BPES by the combined Sanger sequencing, target capture NGS and microarray analysis. Above findings have enabled genetic counseling and prenatal diagnosis for these pedigrees.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
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Phénotype
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Malformations cutanées
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Malformations urogénitales
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Blépharophimosis
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Facteurs de transcription Forkhead
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Protéine L2 à motif en tête de fourche
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Mutation
Type d'étude:
Prognostic_studies
Limites du sujet:
Humans
langue:
Zh
Texte intégral:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Année:
2021
Type:
Article