4q25 microdeletion encompassing PITX2 : A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
| Autor: | P Calvas, S. El Hout, Nicolas Chassaing, C. Zazo Seco, Adeline Vigouroux, Laurence Bouneau, P. Vande Perre, O. Patat, D. Bourgeois |
|---|---|
| Přispěvatelé: | Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse] |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Pediatrics MESH: Epidermal Growth Factor / genetics Glaucoma Haploinsufficiency 030105 genetics & heredity [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases MESH: Child Genotype Eye Abnormalities PITX2 Child Genetics (clinical) Tetralogy of Fallot MESH: Tetralogy of Fallot / pathology Genetics 4q25 Eye Diseases Hereditary MESH: Tooth Abnormalities / pathology MESH: Fatty Acid Elongases General Medicine MESH: Tooth Abnormalities / genetics Tetralogy of fallot Phenotype Penetrance Pedigree 3. Good health MESH: Acetyltransferases / genetics Female MESH: Chromosomes Human Pair 4 / genetics MESH: Haploinsufficiency Chromosome Deletion Chromosomes Human Pair 4 Adult congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Fatty Acid Elongases MESH: Pedigree MESH: Chromosome Deletion MESH: Eye Diseases Hereditary Biology Glutamyl Aminopeptidase MESH: Phenotype MESH: Transcription Factors / genetics 03 medical and health sciences stomatognathic system Acetyltransferases Anterior Eye Segment medicine Humans MESH: Anterior Eye Segment / abnormalities MESH: Homeodomain Proteins / genetics Homeodomain Proteins MESH: Humans Epidermal Growth Factor Axenfeld-rieger syndrome MESH: Glutamyl Aminopeptidase / genetics Tooth Abnormalities Point mutation MESH: Eye Abnormalities / pathology MESH: Adult medicine.disease MESH: Male eye diseases stomatognathic diseases 030104 developmental biology MESH: Tetralogy of Fallot / genetics MESH: Eye Abnormalities / genetics sense organs MESH: Female Transcription Factors MESH: Anterior Eye Segment / pathology |
| Zdroj: | European Journal of Medical Genetics European Journal of Medical Genetics, Elsevier, 2018, 61 (2), pp.72-78. ⟨10.1016/j.ejmg.2017.10.018⟩ |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2017.10.018 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect