Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five families with biallelic TMEM260 variants. Var...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2022-01, Vol.101 (1), p.127-133
Hauptverfasser:	Pagnamenta, Alistair T., Jackson, Adam, Perveen, Rahat, Beaman, Glenda, Petts, Gemma, Gupta, Asheeta, Hyder, Zerin, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau, Cheung, Ka Wang, Kerstjens‐Frederikse, Wilhelmina S., Abbott, Kristin M., Elpeleg, Orly, Taylor, Jenny C., Banka, Siddharth, Ta‐Shma, Asaf
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Alleles Amino Acid Substitution Children Congenital defects Creatinine Cysts exome sequencing Family Fetuses Genetic Association Studies Genetic Predisposition to Disease genome sequencing Genomes Genotype Heart Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Heterozygote Humans kidney Kidney Diseases - diagnosis Kidney Diseases - genetics Kidneys Membrane Proteins - genetics Patients Phenotype Phenotypes phenotypic variability renal failure SHDRA structural heart defects and renal anomalies syndrome TMEM260 truncus arteriosus Truncus Arteriosus - abnormalities Ventricle
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!