Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Journal
Molecular vision
ISSN: 1090-0535
Titre abrégé: Mol Vis
Pays: United States
ID NLM: 9605351
Informations de publication
Date de publication:
2022
2022
Historique:
received:
21
01
2022
accepted:
04
10
2022
entrez:
7
11
2022
pubmed:
8
11
2022
medline:
9
11
2022
Statut:
epublish
Résumé
To investigate the molecular pathogenesis of a large group of Han Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), and to evaluate the correlation between the phenotype and genotype for these patients. Seventy-six affected individuals, including 45 patients from 17 pedigrees and 31 sporadic patients, were recruited with their family members. All participants underwent complete clinical examinations and were classified as having type I or II based on whether they had premature ovarian failure. The patients' genomic DNA was extracted. A genetic test was performed with direct sequencing of the coding regions of the Seventy-six affected and 75 unaffected individuals underwent clinical evaluations and genetic testing. Only one family was diagnosed with type I; the others could not be classified because of a lack of female patients or a definite history of premature ovarian failure. Twenty-seven variations were identified, including 12 novel and 15 previously reported variations. Six variations were detected repeatedly in different nonconsanguineous pedigrees. Four indel variations, located in the alanine/proline-rich region of the We identified 12 novel variations in the
Substances chimiques
Forkhead Box Protein L2
0
Forkhead Transcription Factors
0
Alanine
OF5P57N2ZX
Proline
9DLQ4CIU6V
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
352-358Informations de copyright
Copyright © 2022 Molecular Vision.
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