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Article: Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature

TitlePrenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
Authors
KeywordsDevelopmental delay
PACS1 variant
Schuurs‐Hoeijmakers syndrome
Whole exome sequencing
Issue Date2021
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2021, v. 185 n. 2, p. 384-389 How to Cite?
AbstractSchuurs‐Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the PACS1 gene on chromosome 11q13. There are 36 individuals published in the literature so far, mostly diagnosed postnatally (34/36) after recognizing the typical facial features co‐occurring with developmental delay, intellectual disability, and multiple malformations. Herein, we present one prenatal and 15 postnatal cases with the recurrent heterozygous pathogenic variant NM_018026.3:c.607C>T p.(Arg203Trp) in the PACS1 gene detected by exome sequencing. These 16 cases were identified by mining Centogene and the Hong Kong clinical genetic service databases. Collectively, the 49 postnatally diagnosed individuals present with typical facial features and developmental delay, while the three prenatally diagnosed individuals present with multiple congenital anomalies. In the current study, the use of exome sequencing as an unbiased diagnostic tool aided the diagnosis of SHS (pre‐ and postnatally). The identification of additional cases with SHS add to the current understanding of the clinical phenotype associated with pathogenic PACS1 variants. Databases combining clinical and genetic information are helpful for the study of rare diseases.
Persistent Identifierhttp://hdl.handle.net/10722/293857
ISSN
2020 Impact Factor: 2.802
2020 SCImago Journal Rankings: 1.064
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorSeto, MTY-
dc.contributor.authorBertoli-Avella, AM-
dc.contributor.authorCheung, KW-
dc.contributor.authorChan, KYK-
dc.contributor.authorYeung, KS-
dc.contributor.authorFung, JLF-
dc.contributor.authorBeetz, C-
dc.contributor.authorBauer, P-
dc.contributor.authorLuk, HM-
dc.contributor.authorLo, IFM-
dc.contributor.authorLee, CP-
dc.contributor.authorChung, BHY-
dc.contributor.authorKan, ASY-
dc.date.accessioned2020-11-23T08:22:48Z-
dc.date.available2020-11-23T08:22:48Z-
dc.date.issued2021-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2021, v. 185 n. 2, p. 384-389-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/293857-
dc.description.abstractSchuurs‐Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the PACS1 gene on chromosome 11q13. There are 36 individuals published in the literature so far, mostly diagnosed postnatally (34/36) after recognizing the typical facial features co‐occurring with developmental delay, intellectual disability, and multiple malformations. Herein, we present one prenatal and 15 postnatal cases with the recurrent heterozygous pathogenic variant NM_018026.3:c.607C>T p.(Arg203Trp) in the PACS1 gene detected by exome sequencing. These 16 cases were identified by mining Centogene and the Hong Kong clinical genetic service databases. Collectively, the 49 postnatally diagnosed individuals present with typical facial features and developmental delay, while the three prenatally diagnosed individuals present with multiple congenital anomalies. In the current study, the use of exome sequencing as an unbiased diagnostic tool aided the diagnosis of SHS (pre‐ and postnatally). The identification of additional cases with SHS add to the current understanding of the clinical phenotype associated with pathogenic PACS1 variants. Databases combining clinical and genetic information are helpful for the study of rare diseases.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.subjectDevelopmental delay-
dc.subjectPACS1 variant-
dc.subjectSchuurs‐Hoeijmakers syndrome-
dc.subjectWhole exome sequencing-
dc.titlePrenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature-
dc.typeArticle-
dc.identifier.emailSeto, MTY: mimiseto@hku.hk-
dc.identifier.emailCheung, KW: kawang@hku.hk-
dc.identifier.emailChan, KYK: ykchanc@hku.hk-
dc.identifier.emailYeung, KS: ksyyeung@hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailLuk, HM: lukhm@hku.hk-
dc.identifier.emailLee, CP: chinpeng@hkucc.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailKan, ASY: kansya@hkucc.hku.hk-
dc.identifier.authorityChan, KYK=rp00453-
dc.identifier.authorityLee, CP=rp01862-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.61964-
dc.identifier.pmid33166031-
dc.identifier.scopuseid_2-s2.0-85096707352-
dc.identifier.hkuros319104-
dc.identifier.volume185-
dc.identifier.issue2-
dc.identifier.spage384-
dc.identifier.epage389-
dc.identifier.isiWOS:000587468200001-
dc.publisher.placeUnited States-

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