Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report

Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still lack a genetic diagnosis. We present a report linking a de novo PDE3A va...

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Veröffentlicht in:	BMC medical genetics 2020-07, Vol.21 (1), p.1-144, Article 144
Hauptverfasser:	Li, Xianqing, Li, Zongzhe, Chen, Peng, Wang, Yan, Wang, Dao Wen, Wang, Dao Wu
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Bioinformatics Blood pressure Brachydactyly Case Report Case reports Copy number Deoxyribonucleic acid Diagnosis DNA DNA sequencing Enzymes Families & family life Fingers & toes Genes Genetic diagnosis Genetic screening Genomes Hypertension Hypertension with brachydactyly type E syndrome Kinases Phosphorylation Proteins Smooth muscle Software Whole-exome sequencing
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Zusammenfassung:	Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still lack a genetic diagnosis. We present a report linking a de novo PDE3A variant to autosomal dominant hypertension with brachydactyly type E syndrome.
ISSN:	1471-2350 1471-2350
DOI:	10.1186/s12881-020-01077-z