Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

Molecular Cytogenetics

Bela Melegh¹  Gyorgy Kosztolanyi¹  Peter Kisfali¹  Katalin Sumegi¹  Katalin Torok²  Kinga Hadzsiev¹  Katalin Komlosi¹  Marta Czako¹  Balazs Duga¹ 

[1] Szentágothai Research Centre, University of Pecs, Ifjusag 20, Pecs H-7624, Hungary;Department of Pediatrics, Clinical Centre, University of Pecs, Jozsef Attila 7, Pecs H-7623, Hungary

关键词: Vascular malformation of the lung;    Face dysmorphia;    Pulmonary hypertension;    Developmental delay;    Complex malformation syndrome;    Deletion;    Array CGH;    4q28.3-31.23;   

Others  :  1150004
DOI  :  10.1186/1755-8166-7-36

 received in 2014-01-24, accepted in 2014-05-23,  发布年份 2014

【 摘 要 】

The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-old girl with growth failure, developmental delay, ventricular septum defect in the subaortic region, patent foramen ovale and patent ductus arteriosus, vascular malformation of the lung, dysgenesis of the corpus callosum and craniofacial dysmorphism using array-comparative genomic hybridization. This de novo deletion is located at 4q28.3-31.23 (136,127,048 - 150,690,325), its size is 14.56 Mb, and contains 8 relevant genes (PCDH18, SETD7, ELMOD2, IL15, GAB1, HHIP, SMAD1, NR3C2) with possible contributions to the phenotype. Among other functions, a role in lung morphogenesis and tubulogenesis can be attributed to the deleted genes in our patient, which may explain the unique feature of vascular malformation of the lung leading to pulmonary hypertension. With the detailed molecular characterization of our case with 4q- syndrome we hope to contribute to the elucidation of the genetic spectrum of this disorder.

【 授权许可】

   
2014 Duga et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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