PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

Autor: Leduc F; CHU Lille, Univ. Lille, Clinique de génétique « Guy Fontaine », ULR7364 RADEME, F-59000, Lille, France. Electronic address: fiona.leduc@chu-lille.fr., Smol T; CHU Lille, Univ. Lille, Institut de Génétique médicale, ULR7364 RADEME, F-59000, Lille, France., Catteau B; CHU Lille, Service de dermatologie, F-59000, Lille, France., Boute O; CHU Lille, Univ. Lille, Clinique de génétique « Guy Fontaine », ULR7364 RADEME, F-59000, Lille, France., Petit F; CHU Lille, Univ. Lille, Clinique de génétique « Guy Fontaine », ULR7364 RADEME, F-59000, Lille, France.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104942. Date of Electronic Publication: 2024 Apr 25.
DOI: 10.1016/j.ejmg.2024.104942
Abstrakt: Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the protein kinase D1 (PRKD1) gene. The phenotype of TEBC remains incomplete at this point. Our aim is to improve the characterization of the clinical and molecular aspects of the TEBC syndrome. We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G > A, p. (Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described initially in the TEBC syndrome. Further descriptions are required to confirm the observed endocrine and kidney abnormalities. This should contribute to a more comprehensive understanding of the phenotypic spectrum and may help establish genotype-phenotype correlations. In the context of genotype-first strategy, accurate patient descriptions are fundamental. Characterization of specific syndromic associations is essential for variant interpretation support and patient follow-up, even in very rare diseases, such as the TEBC syndrome.
(Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
Databáze: MEDLINE
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