Author:
Mazen Inas,McElreavey Kenneth,Eid Maha M.,Bashamboo Anu,Kamah Ghada
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 <i>FANCA</i> 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.
Subject
Developmental Biology,Embryology,Endocrinology, Diabetes and Metabolism
Cited by
3 articles.
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