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 7 Mb 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.

Caselli, R., Mencarelli, M.A., Papa, F.T., Uliana, V., Schiavone, S., Strambi, M., et al. (2007). 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, 50(4), 315-321 [10.1016/j.ejmg.2007.03.003].

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

CASELLI, R.;MENCARELLI, M. A.;PAPA, F. T.;ULIANA, V.;SCHIAVONE, S.;STRAMBI, M.;PESCUCCI, C.;ARIANI, F.;LONGO, I.;MELONI, I.;RENIERI, A.;MARI, F.
2007-01-01

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 7 Mb 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.
2007
Caselli, R., Mencarelli, M.A., Papa, F.T., Uliana, V., Schiavone, S., Strambi, M., et al. (2007). 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, 50(4), 315-321 [10.1016/j.ejmg.2007.03.003].
File in questo prodotto:
File Dimensione Formato  
Caselli R et al. Eur J Med genet 2007.pdf

non disponibili

Tipologia: PDF editoriale
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 562.1 kB
Formato Adobe PDF
562.1 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/12391
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo