Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a death newborn and identification of a new mutation in the exon 29 of the CHD7 gene

摘要

CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities) is an autosomal dominant disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the CHD7 gene are the major cause of CHARGE syndrome. Here, we present a family who sought genetic counseling because of a newborn with dysmorphic features suggesting CHARGE syndrome. The baby died three months later. Afterwards, a molecular genetic testing for sequence analysis of the CHD7 coding region was performed with DNA extracted from umbilical cord blood stem cells confirming the diagnosis of CHARGE syndrome. Although the diagnosis is first suspected clinically, in the newborn case presented here, we illustrate the importance of the molecular testing to confirm the diagnosis, and to enable precise genetic counseling. Also, even though cord blood has been stored in private banks for more than ten years, there is as yet no routine clinical application of autologous (self-donation) hematopoietic stem cells from cord blood. Now, we illustrate for the first time the usefulness of umbilical cord blood stem cells for diagnosis and genetic counseling in a case that involve a dead propositus.