Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.
The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.
Chiu
Chia-Hua
CH
Division of Newborn Medicine, Department of Medicine, Children's, Hospital, Boston, MA, USA.
Thakuria
Joseph
J
Agrawal
Pankaj B
PB
D000015:Abnormalities, Multiple; D002493:Central Nervous System Diseases / Q000150:complications / Q000235:genetics; D002754:Choanal Atresia / Q000150:complications / Q000235:genetics; D003103:Coloboma / Q000150:complications / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D000071838:Fibrillin-1; D000071837:Fibrillins; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009059:Mouth Diseases / Q000150:complications / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D013122:Spinal Diseases / Q000150:complications / Q000235:genetics; D013577:Syndrome; D015837:Vestibular Diseases / Q000150:complications / Q000235:genetics; D054392:Adipokines
D004265:DNA Helicases; D004268:DNA-Binding Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C491434:CHD7 protein, human