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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.


ABSTRACT: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous FOXL2 intragenic mutations in about 70% of the patients, whereas total or partial gene deletions account for a minority of cases. Alteration of FOXL2 regulatory elements has been rarely described in patients with BPES. In this study, a prepubertal girl with BPES due to a 197-kb de novo deletion of the regulatory elements upstream of FOXL2 is reported. This girl presented with additional clinical features such as a soft cleft palate and microcephaly; thus, this copy number variant might have other somatic effects. The present deletion encompasses 2 coding genes (MRPS22 and COPB2), whose homozygous mutations have been associated with microcephaly. In our case, the sequences of the non-deleted allele were normal, ruling out a compound genetic defect. Normal levels of new biomarkers of ovarian reserve (anti-müllerian hormone, inhibin B) likely indicate an early diagnosis of type 2 BPES, but an evolutive gonadal damage will be excluded only by long-term follow-up. Additional reports of microdeletions upstream of FOXL2 are needed to better define the underlying genetic mechanism and the related phenotypic spectrum; the ability of the new hormonal markers to predict ovarian function in adolescence and adulthood should be confirmed.

SUBMITTER: Bertini V 

PROVIDER: S-EPMC6528085 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of <i>FOXL2</i> and Review of the Literature.

Bertini Veronica V   Valetto Angelo A   Baldinotti Fulvia F   Azzarà Alessia A   Cambi Francesca F   Toschi Benedetta B   Giacomina Alessandro A   Gatti Gian L GL   Gana Simone S   Caligo Maria A MA   Bertelloni Silvano S  

Molecular syndromology 20190320 3


Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous <i>FOXL2</i> intragenic mutations in about 70% of the patients, whereas total or partial gene deletions account for a minority of cases. Alteration of <i>FOXL2</i> regulatory elements has been rarely described in patients with BPES. In this study, a prepubertal girl with BPES due to a 197-kb de novo deletion of the regulatory elements upstream of <i>FOXL2</i> is reported. This girl presented with additional  ...[more]

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