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4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.
Vande Perre, P; Zazo Seco, C; Patat, O; Bouneau, L; Vigouroux, A; Bourgeois, D; El Hout, S; Chassaing, N; Calvas, P.
Afiliação
  • Vande Perre P; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France; UDEAR, Université de Toulouse, UMRS 1056 Inserm-Université Paul Sabatier, Toulouse, France.
  • Zazo Seco C; UDEAR, Université de Toulouse, UMRS 1056 Inserm-Université Paul Sabatier, Toulouse, France.
  • Patat O; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France; UDEAR, Université de Toulouse, UMRS 1056 Inserm-Université Paul Sabatier, Toulouse, France.
  • Bouneau L; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France.
  • Vigouroux A; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France.
  • Bourgeois D; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France.
  • El Hout S; Service d'Ophtalmologie, Hôpital Purpan, CHU Toulouse, France.
  • Chassaing N; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France; UDEAR, Université de Toulouse, UMRS 1056 Inserm-Université Paul Sabatier, Toulouse, France.
  • Calvas P; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France; UDEAR, Université de Toulouse, UMRS 1056 Inserm-Université Paul Sabatier, Toulouse, France. Electronic address: calvas.p@chu-toulouse.fr.
Eur J Med Genet ; 61(2): 72-78, 2018 Feb.
Article em En | MEDLINE | ID: mdl-29100920
Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations of FOXC1 and PITX2 are responsible for about 40% of the ARS cases. We describe the phenotype of a patient carrying a deletion encompassing the 4q25 locus containing PITX2 gene. This child presented with a congenital heart defect (Tetralogy of Fallot, TOF) and no signs of ARA. He is the first patient described with TOF and a complete deletion of PITX2 (arr[GRCh37]4q25(110843057-112077858)x1, involving PITX2, EGF, ELOVL6 and ENPEP) inherited from his ARS affected mother. In addition, to our knowledge, he is the first patient reported with no ocular phenotype associated with haploinsufficiency of PITX2. We compare the phenotype and genotype of this patient to those of five other patients carrying 4q25 deletions. Two of these patients were enrolled in the university hospital in Toulouse, while the other three were already documented in DECIPHER. This comparative study suggests both an incomplete penetrance of the ocular malformation pattern in patients carrying PITX2 deletions and a putative association between TOF and PITX2 haploinsufficiency.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tetralogia de Fallot / Anormalidades Dentárias / Cromossomos Humanos Par 4 / Anormalidades do Olho / Deleção Cromossômica / Segmento Anterior do Olho Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tetralogia de Fallot / Anormalidades Dentárias / Cromossomos Humanos Par 4 / Anormalidades do Olho / Deleção Cromossômica / Segmento Anterior do Olho Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França País de publicação: Holanda