A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. Sex Dev. 2018 Jul 21;: Authors: Mazen I, McElreavey K, Eid MM, Bashamboo A, Kamah G Abstract Fanconi anemia (FA) is a pleiotropic condition with 2 characteristic phenotypic markers of hematological and cytogenetic changes. The phenotype of patients with FA is very heterogeneous, associated with an array of congenital malformations affecting the skeletal, renal, genital, and/or central nervous systems. Here, we report on a 46,XY female who presented with gonadal dysgenesis and microcephaly. Exome sequencing showed that she was homozygous for a rare variant in the FANCA gene (c.4232C>T, p.P1411L, rs201494304). Both parents were heterozygous for the mutation. The FA mutation was associated with an atypical clinical presentation, and thus exome sequencing provided essential data that otherwise would have been overlooked in the diagnosis of this patient. PMID: 30032139 [PubMed - as supplied by publisher]
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - Category: Genetics & Stem Cells Authors: Tags: Sex Dev Source Type: research