Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.

Autor: Seto MT; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong., Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany., Cheung KW; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong., Chan KY; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong., Yeung KS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong., Fung JL; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong., Beetz C; CENTOGENE GmbH, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany., Luk HM; Department of Health, Clinical Genetic Service, Kowloon Bay, Hong Kong., Lo IF; Department of Health, Clinical Genetic Service, Kowloon Bay, Hong Kong., Lee CP; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong., Chung BH; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong., Kan AS; Department of Obstetrics and Gynecology, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 384-389. Date of Electronic Publication: 2020 Nov 09.
DOI: 10.1002/ajmg.a.61964
Abstrakt: 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.
(© 2020 Wiley Periodicals LLC.)
Databáze: MEDLINE
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