Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature,American Journal of Medical Genetics Part A

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Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-11-09 , DOI: 10.1002/ajmg.a.61964
Mimi Tin-Yan Seto ₁ , Aida M Bertoli-Avella ₂ , Ka Wang Cheung ₁ , Kelvin Yuen-Kwong Chan _{1,

3} , Kit San Yeung ₄ , Jasmine Lee-Fong Fung ₄ , Christian Beetz ₂ , Peter Bauer ₂ , Ho Ming Luk ₅ , Ivan Fai-Man Lo ₅ , Chin Peng Lee ₁ , Brian Hon-Yin Chung _{1,

4} , Anita Sik-Yau Kan _{1,

3}

Affiliation

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.

更新日期：2021-01-12

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