File Download
There are no files associated with this item.
Links for fulltext
(May Require Subscription)
- Publisher Website: 10.1002/ajmg.a.61964
- Scopus: eid_2-s2.0-85096707352
- PMID: 33166031
- WOS: WOS:000587468200001
- Find via
Supplementary
- Citations:
- Appears in Collections:
Article: Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
Title | Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature |
---|---|
Authors | |
Keywords | Developmental delay PACS1 variant Schuurs‐Hoeijmakers syndrome Whole exome sequencing |
Issue Date | 2021 |
Publisher | John 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? |
Abstract | Schuurs‐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 Identifier | http://hdl.handle.net/10722/293857 |
ISSN | 2023 Impact Factor: 1.7 2023 SCImago Journal Rankings: 0.718 |
ISI Accession Number ID |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Seto, MTY | - |
dc.contributor.author | Bertoli-Avella, AM | - |
dc.contributor.author | Cheung, KW | - |
dc.contributor.author | Chan, KYK | - |
dc.contributor.author | Yeung, KS | - |
dc.contributor.author | Fung, JLF | - |
dc.contributor.author | Beetz, C | - |
dc.contributor.author | Bauer, P | - |
dc.contributor.author | Luk, HM | - |
dc.contributor.author | Lo, IFM | - |
dc.contributor.author | Lee, CP | - |
dc.contributor.author | Chung, BHY | - |
dc.contributor.author | Kan, ASY | - |
dc.date.accessioned | 2020-11-23T08:22:48Z | - |
dc.date.available | 2020-11-23T08:22:48Z | - |
dc.date.issued | 2021 | - |
dc.identifier.citation | American Journal of Medical Genetics Part A, 2021, v. 185 n. 2, p. 384-389 | - |
dc.identifier.issn | 1552-4825 | - |
dc.identifier.uri | http://hdl.handle.net/10722/293857 | - |
dc.description.abstract | Schuurs‐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.language | eng | - |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html | - |
dc.relation.ispartof | American Journal of Medical Genetics Part A | - |
dc.subject | Developmental delay | - |
dc.subject | PACS1 variant | - |
dc.subject | Schuurs‐Hoeijmakers syndrome | - |
dc.subject | Whole exome sequencing | - |
dc.title | Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature | - |
dc.type | Article | - |
dc.identifier.email | Seto, MTY: mimiseto@hku.hk | - |
dc.identifier.email | Cheung, KW: kawang@hku.hk | - |
dc.identifier.email | Chan, KYK: ykchanc@hku.hk | - |
dc.identifier.email | Yeung, KS: ksyyeung@hku.hk | - |
dc.identifier.email | Fung, JLF: jasflf@connect.hku.hk | - |
dc.identifier.email | Luk, HM: lukhm@hku.hk | - |
dc.identifier.email | Lee, CP: chinpeng@hkucc.hku.hk | - |
dc.identifier.email | Chung, BHY: bhychung@hku.hk | - |
dc.identifier.email | Kan, ASY: kansya@hkucc.hku.hk | - |
dc.identifier.authority | Chan, KYK=rp00453 | - |
dc.identifier.authority | Lee, CP=rp01862 | - |
dc.identifier.authority | Chung, BHY=rp00473 | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1002/ajmg.a.61964 | - |
dc.identifier.pmid | 33166031 | - |
dc.identifier.scopus | eid_2-s2.0-85096707352 | - |
dc.identifier.hkuros | 319104 | - |
dc.identifier.volume | 185 | - |
dc.identifier.issue | 2 | - |
dc.identifier.spage | 384 | - |
dc.identifier.epage | 389 | - |
dc.identifier.isi | WOS:000587468200001 | - |
dc.publisher.place | United States | - |