title: 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.
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.
authors.affiliation: Medical Genetics, University of Siena, Molecular Biology Department, V.Le Bracci, 53100 Siena, SI, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Caselli
authors.forename: M A
authors.initials: MA
authors.lastname: Mencarelli
authors.forename: F T
authors.initials: FT
authors.lastname: Papa
authors.forename: V
authors.initials: V
authors.lastname: Uliana
authors.forename: S
authors.initials: S
authors.lastname: Schiavone
authors.forename: M
authors.initials: M
authors.lastname: Strambi
authors.forename: C
authors.initials: C
authors.lastname: Pescucci
authors.forename: F
authors.initials: F
authors.lastname: Ariani
authors.forename: V
authors.initials: V
authors.lastname: Rossi
authors.forename: I
authors.initials: I
authors.lastname: Longo
authors.forename: I
authors.initials: I
authors.lastname: Meloni
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: F
authors.initials: F
authors.lastname: Mari
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006343:Heart Septal Defects / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008046:Lip / Q000002:abnormalities; D010749:Phosphoprotein Phosphatases / Q000235:genetics; D054645:Protein Phosphatase 1
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C454464:PPP1R14C protein, human; D010749:Phosphoprotein Phosphatases; D054645:Protein Phosphatase 1