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© Research
Publication : Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 08 Apr 2016

Mazen I, Amin H, Kamel A, El Ruby M, Bignon-Topalovic J, Bashamboo A, McElreavey K

Link to Pubmed [PMID] – 27055092

Sex Dev 2016;10(1):16-22

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.

https://www.ncbi.nlm.nih.gov/pubmed/27055092