Novel TRPV 4 variant causes a severe form of metatropic dysplasia

Novel TRPV 4 variant causes a severe form of metatropic dysplasia

We present a girl born with a frontal bossing, short neck, bell‐shaped thorax, short limbs with prominent joints, and a tail‐like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysp...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clinical case reports 2018-09, Vol.6 (9), p.1774-1778
Hauptverfasser: Graversen, Lise, Haagerup, Annette, Andersen, Brian N., Petersen, Karin K., Gjørup, Vibike, Gudmundsdottir, Gudrun, Vogel, Ida, Gregersen, Pernille A.
Format: Artikel
Sprache:eng
Schlagworte:
Birth defects
Case reports
Dwarfism
Genetic disorders
Medical diagnosis
Newborn babies
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:We present a girl born with a frontal bossing, short neck, bell‐shaped thorax, short limbs with prominent joints, and a tail‐like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysplasia in this patient.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.1598