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Article: Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions

TitleFurther expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions
Authors
KeywordsBainbridge-Ropers syndrome
BRPS
ASXL3
Issue Date2021
PublisherElsevier France, Editions Scientifiques et Medicales. The Journal's web site is located at http://www.elsevier.com/locate/ejmg
Citation
European Journal of Medical Genetics, 2021, v. 64 n. 1, p. article no. 104107 How to Cite?
AbstractBainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, intellectual disability with poor or absent speech, feeding difficulties, growth failure, specific craniofacial and minor skeletal features. It was firstly reported in 2013 by Bainbridge et al., who observed a group of individuals sharing overlapping features with Bohring-Opitz syndrome which were caused by pathogenic variant in ASXL1, who indeed carried truncating mutations in ASXL3. To date, 33 cases were described in the literature. BRPS is caused by loss-of-function mutations in ASXL3 which are mostly located in two mutational cluster regions (MCR). The exact molecular mechanism of these mutations resulting in the disease phenotype is still uncertain due to the observation of LOF mutations in healthy population. Here, we report four individuals with BRPS carrying de novo LOF mutations in ASXL3, comparing and summarizing the clinical phenotype of all BRPS reported so far. Furthermore, we try to dissect the genotype-phenotype correlation among the two well reported MCRs in all BRPS from the literature.
Persistent Identifierhttp://hdl.handle.net/10722/294579
ISSN
2023 Impact Factor: 1.6
2023 SCImago Journal Rankings: 0.666
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorYu, KPT-
dc.contributor.authorLuk, HM-
dc.contributor.authorFung, JLF-
dc.contributor.authorChung, BHY-
dc.contributor.authorLo, IFM-
dc.date.accessioned2020-12-08T07:38:58Z-
dc.date.available2020-12-08T07:38:58Z-
dc.date.issued2021-
dc.identifier.citationEuropean Journal of Medical Genetics, 2021, v. 64 n. 1, p. article no. 104107-
dc.identifier.issn1769-7212-
dc.identifier.urihttp://hdl.handle.net/10722/294579-
dc.description.abstractBainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, intellectual disability with poor or absent speech, feeding difficulties, growth failure, specific craniofacial and minor skeletal features. It was firstly reported in 2013 by Bainbridge et al., who observed a group of individuals sharing overlapping features with Bohring-Opitz syndrome which were caused by pathogenic variant in ASXL1, who indeed carried truncating mutations in ASXL3. To date, 33 cases were described in the literature. BRPS is caused by loss-of-function mutations in ASXL3 which are mostly located in two mutational cluster regions (MCR). The exact molecular mechanism of these mutations resulting in the disease phenotype is still uncertain due to the observation of LOF mutations in healthy population. Here, we report four individuals with BRPS carrying de novo LOF mutations in ASXL3, comparing and summarizing the clinical phenotype of all BRPS reported so far. Furthermore, we try to dissect the genotype-phenotype correlation among the two well reported MCRs in all BRPS from the literature.-
dc.languageeng-
dc.publisherElsevier France, Editions Scientifiques et Medicales. The Journal's web site is located at http://www.elsevier.com/locate/ejmg-
dc.relation.ispartofEuropean Journal of Medical Genetics-
dc.subjectBainbridge-Ropers syndrome-
dc.subjectBRPS-
dc.subjectASXL3-
dc.titleFurther expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions-
dc.typeArticle-
dc.identifier.emailLuk, HM: lukhm@hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.ejmg.2020.104107-
dc.identifier.pmid33242595-
dc.identifier.scopuseid_2-s2.0-85096566109-
dc.identifier.hkuros320451-
dc.identifier.volume64-
dc.identifier.issue1-
dc.identifier.spagearticle no. 104107-
dc.identifier.epagearticle no. 104107-
dc.identifier.isiWOS:000612309700005-
dc.publisher.placeFrance-

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