title: Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
abstract: Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 25% of all major congenital anomalies leading to mortality in the first year of life. Extracardiac anomalies including urogenital aberrations are present in ∼30% of all cases. Here, we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype.
authors.affiliation: Department of Clinical Genetics, National Research Center, Cairo, Egypt.
authors.forename: Inas
authors.initials: I
authors.lastname: Mazen
authors.forename: Heba
authors.initials: H
authors.lastname: Amin
authors.forename: Alaa
authors.initials: A
authors.lastname: Kamel
authors.forename: Mona
authors.initials: M
authors.lastname: El Ruby
authors.forename: Joelle
authors.initials: J
authors.lastname: Bignon-Topalovic
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics; D059472:Exome / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; C105684:STARD3 protein, human; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1