Cleft lip and palate (CLP) is on the list of the most prevalent birth defects, with an incidence of 1/700–1000
newborns although variable among populations [
[1]
]. Affected individuals experience severe feeding, hearing, speech and psychological
problems. Most of CLP cases are supposed to be non-syndromic, presenting with isolated
entities and no other congenital anomalies. We here report a Chinese woman in whom
a mosaic CDH1 variant was revealed by molecular testing of her offsprings with CLP.To read this article in full you will need to make a payment
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References
- Cleft Palate Craniofac J. 2012; 49: 73-91
- Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond.JAMA Oncol. 2015; 1: 23-32
- Clinical spectrum and pleiotropic nature of CDH1 germline mutations.J Med Genet. 2019; 56: 199-208
- Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.Genet Med. 2017; 19: 1013-1021
- Genotype-phenotype correlations in hereditary familial retinoblastoma.Hum Mutat. 2007; 28: 284-293
Article info
Publication history
Published online: September 17, 2021
Accepted:
September 13,
2021
Received:
August 8,
2021
Identification
Copyright
© 2021 Elsevier B.V. All rights reserved.
