[Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome].
OBJECTIVE
To perform genetic analysis in 5 patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and refine the genotype-phenotype correlation.


METHODS
G-band karyotyping, fluorescent in situ hybridization (FISH), SNP array, PCR and sequencing techniques were performed to one patient with BPES and mental retardation and 4 only with BPES.


RESULTS
Patient 1 with mental retardation carried a 9.4 Mb heterozygous deletion in chromosome 3q22.1-q23 including FOXL2 gene; Both patient 2 and 3 carried a c.704delG heterozygous mutation of FOXL2, while they were assigned to the different clinical type from those reported previously. Patient 3 was assigned to type II BPES; No mutation of FOXL2 was detected in patient 4 and 5.


CONCLUSIONS
There might be the gene(s) responsible for mental retardation within chromosome 3q22.1-q23. It was indicated that the mutation c.704delG in FOXL2 led to a truncated protein is associated with both type I and II of BPES.
State Key Lab of Medical Genetics of China, Central South University, Changsha, China.
Zhong-min
ZM
Zhou
De-sheng
DS
Liang
Yi
Y
Quan
Jin-jie
JJ
Xue
Hong-yan
HY
Li
Xiao-bo
XB
Xia
Ling-qian
LQ
Wu
D000293:Adolescent; D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D013577:Syndrome; D055815:Young Adult
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors