Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease‐causing in Holt‐Oram and ulnar‐mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome...

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Veröffentlicht in:	American journal of medical genetics. Part A 2013-07, Vol.161A (7), p.1797-1802
Hauptverfasser:	Alby, Caroline, Bessieres, Bettina, Bieth, Eric, Attie-Bitach, Tania, Fermont, Laurent, Citony, Isabelle, Razavi, Ferechté, Vekemans, Michel, Escande, Fabienne, Manouvrier, Sylvie, Malan, Valérie, Amiel, Jeanne
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - etiology Abnormalities, Multiple - genetics Adult Array CGH Breast Diseases - etiology Breast Diseases - genetics Congenital defects contiguous gene syndrome Female Gene Deletion Heart Defects, Congenital - etiology Heart Defects, Congenital - genetics Heart Septal Defects, Atrial - etiology Heart Septal Defects, Atrial - genetics Holt-Oram syndrome Humans Lower Extremity Deformities, Congenital - etiology Lower Extremity Deformities, Congenital - genetics Phenotype Pregnancy prenatal diagnosis T-Box Domain Proteins - genetics Ulna - abnormalities ulnar-mammary syndrome Upper Extremity Deformities, Congenital - etiology Upper Extremity Deformities, Congenital - genetics Young Adult
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Zusammenfassung:	We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease‐causing in Holt‐Oram and ulnar‐mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array‐CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability. © 2013 Wiley Periodicals, Inc.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.36054