Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

doi:10.1007/978-1-4614-1037-9_26

Cited by 1 publication

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“…It is important to consider non-biological explanations such as alternate paternity or undisclosed adoption [83]. A patient's sibling has minimum risk of having the disease if neither parents are affected and they are born without any eyelid abnormalities, although germline mosaicism has been documented with BPES [3]. If the parent of the proband is affected, the risk to siblings is 50%.…”

Section: Genetic Counselling and Testingmentioning

confidence: 99%

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The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

Méjécase¹,

Nigam

Moosajee

et al. 2021

Genes

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Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. The genotype–phenotype correlation is not fully understood, but it has been hypothesised that type I BPES involves more severe loss of function variants spanning the whole gene. Type II BPES has been linked to frameshift mutations that result in elongation of the protein rather than complete loss of function. A mutational hotspot has been identified within the poly-alanine domain, although the exact function of this region is still unknown. However, the BPES subtype cannot be determined genetically, necessitating informed genetic counselling and careful discussion of family planning advice in view of the associated POF particularly as the patient may still be a child. Following puberty, female patients should be referred for ovarian reserve and response assessment. Oculofacial features can be managed with surgical intervention and regular monitoring to prevent amblyopia.

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Section: Genetic Counselling and Testingmentioning

confidence: 99%

“…In mice, Foxl2 expression is localised to the protruding ridges of the developing eyelids and in ovarian follicular cells. Up to 75% of affected individuals may have detectable FOXL2 mutation, leading to haploinsufficiency [3][4][5][6].…”

Section: Introductionmentioning

confidence: 99%