title: Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of theTBX5and theTBX3genes.
abstract: Holt-Oram syndrome (HOS) features radial ray hypoplasia, heart defect and cardiac conduction impairment. Ulnar-mammary syndrome (UMS) characterizes congenital defects of the ulnar side of the upper limbs, underdevelopment of apocrine glands including hypoplasia and the dysfunction of mammary glands, hypogonadism and obesity. Inheritance of both conditions is autosomal dominant, mutations or deletions are found in theTBX5andTBX3gene, respectively. The Polish patient presented short stature, obesity, congenital malformation of the radial and ulnar side of the upper limbs, heart block, hypogonadism and dysmorphic features. At the age of 13 years he lost consciousness developing respiratory insufficiency caused by bradycardia in the course of sudden atrioventricular third degree heart block requiring immediate implantation of pace maker-defibrillator device. Microdeletion of the 12q24.21 was identified using array CGH method. This region includes contiguous genes theTBX5, TBX3, and part ofRBM19.The patient initially diagnosed as having HOS, was found to present the UMS features as well. Array CGH method should be applied in patients suspected of HOS or UMS, especially when sequencing ofTBX5orTBX3genes fails to identify causative mutation.
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-930 Warsaw, Poland ; Department of Audiology and Phoniatrics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-930 Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Iwanicka-Pronicka
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Fredry 10, 61-701 Poznan, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Socha
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-930 Warsaw, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Jędrzejowska
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-930 Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Fredry 10, 61-701 Poznan, Poland ; NZOZ Center for Medical Genetics, GENESIS ul. Grudzieniec 4, 60-601 Poznan, Poland.
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
keywords: Array-CGH; Heart block; Holt–Oram syndrome; Microdeletion; TBX3 gene; TBX5 gene; Ulnar-mammary syndrome