A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

European Journal of Medical Genetics
R CaselliF Mari

Abstract

We report a female patient with neurodevelopmental delay and peculiar facial features. She has postnatal growth failure and an atrial septal defect. Patent duct arteriosis and tricuspidal insufficiency were also noted at birth. Characteristic facial features include medial flare eyebrows, dysmorphic helix of the right ear, cupshaped left ear, anteverted nares, long and smooth philtrum, thin upper lip, high vaulted palate. Array-CGH analysis demonstrated the presence of a 2.6 Mb deletion in 6q24.3-25.1. The phenotypic features of this case are very similar to those previously reported in a patient with a 7Mb overlapping deletion, pointing to a specific new syndrome. Twenty-two genes are present in the common critical deleted region. Among them, there is the PPP1R14C gene that encodes for KEPI, a PKC-potentiated inhibitory protein for type-1 Ser/Thr protein phosphatase. Its selective distribution in brain and heart well correlates with developmental delay and cardiac anomalies observed in the patient.

References

Jul 1, 1992·American Journal of Medical Genetics·J MengM Funato
Jan 1, 1990·American Journal of Medical Genetics·D R McLeodJ J Hoo
Jan 29, 2002·The Journal of Biological Chemistry·Qing-Rong LiuG R Uhl
Mar 9, 2004·Analytical Biochemistry·Huijun Tian, Howard J Edenberg
Sep 7, 2006·American Journal of Medical Genetics. Part a·Anne-Marie BisgaardFlemming Skovby
Nov 8, 2006·European Journal of Medical Genetics·C PescucciA Renieri

Citations

Jul 4, 2012·Indian Journal of Human Genetics·Sreelata NairPappachan Scariah
May 4, 2017·American Journal of Medical Genetics. Part a·Andrew ChengYajuan J Liu
Jul 4, 2015·American Journal of Medical Genetics. Part a·Karin WeissDenise A S Batista
Jun 6, 2014·American Journal of Medical Genetics. Part a·Vera Ayres MeloniMaria Isabel Melaragno
Jan 26, 2020·European Journal of Medical Genetics·Eduard PermanyerManuel Galiñanes

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.