CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. Issue 12 (24th September 2014)

• Record Type: Journal Article
• Authors: Corsten‐Janssen, Nicole; du Marchie Sarvaas, Gideon J.; Kerstjens‐Frederikse, Wilhelmina S.; Hoefsloot, Lies H.; van Beynum, Ingrid M.; Kapusta, Livia; van Ravenswaaij‐Arts, Conny M.A.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 12(2014.)
• Page Start: 3003
• Page End: 3009
• Publication Date: 2014-09-24
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36747
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36747-sec-0001" sec-type="section"> <p>Since 2004, <italic>CHD7</italic> mutations have been a known cause of CHARGE (Coloboma, Heart defects, Atresia of choane, Retardation of growth and development, Genital hypoplasia, Ear anomalies) syndrome, but the full clinical spectrum of <italic>CHD7</italic> mutations is only now gradually emerging. <italic>CHD7</italic> mutations have been identified in patients who do not fulfill the clinical criteria for CHARGE syndrome and in patients with overlapping syndromes. Variable congenital heart defects occur in the majority of patients with <italic>CHD7</italic> mutations, with an overrepresentation of atrioventricular septal defects and conotruncal heart defects. This prompted us to study <italic>CHD7</italic> in 46 patients with these heart defects and one other feature of CHARGE syndrome. We identified two <italic>CHD7</italic> variants that were inherited from a healthy parent (c.3778 + 17C > T, c.7294G > A), but no pathogenic <italic>CHD7</italic> mutations. We conclude that <italic>CHD7</italic> mutations are not a major cause of the atrioventricular septal defects and conotruncal heart defects, not even if one extra phenotypic feature of CHARGE syndrome is present. Therefore, <italic>CHD7</italic> analysis should not be performed routinely in this group of patients. However, we do recommend adding <italic>CHD7</italic> to massive parallel sequencing gene panels for diagnostic work in patients with syndromic heart defects. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>