A Homozygous Missense Mutation in <b><i>FANCA</i></b> Gene in a 46,XY Female with Gonadal Dysgenesis - Institut Pasteur Access content directly
Journal Articles Sexual Development Year : 2018

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

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.
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pasteur-03521841 , version 1 (11-01-2022)

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Inas Mazen, Ken Mcelreavey, Maha Eid, Anu Bashamboo, Ghada Kamah. A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. Sexual Development, 2018, ⟨10.1159/000491407⟩. ⟨pasteur-03521841⟩

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