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Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation
Author(s) -
Vincent AL,
Watkins WJ,
Sloan BH,
Shelling AN
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00527.x
Subject(s) - blepharophimosis , biology , ptosis , mutation , genetics , phenotype , extraocular muscles , period (music) , gene duplication , gene , anatomy , pharmacology , physics , acoustics
This case describes the novel coexistence of sporadic blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation. Mutational analysis of FOXL2 demonstrated a 30‐nucleotide duplication (c.672 – 701dup30) within the polyalanine tract of FOXL2. The association of BPES and Duane syndrome represents a novel phenotype which may suggest a greater pleiotropic effect of FOXL2 in development. During the period of the 4–8th week of embryonic development, the cranial nerves, their nuclei and the corresponding innervation to the extraocular muscles develop, the extraocular muscles undergo development and differentiation. This coincides with the period of time that FOXL2 is expressed strongly in the developing eyelids and the surrounding tissues. Forkhead genes are transcription factors and likely to be involved in signal transduction pathways. This case expands the spectrum of FOXL2 mutations associated with BPES.