Clinical chemistry and laboratory medicine · 2010
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Lin Wei-De, Chou I-Ching, Lee Ni-Chung, Wang Chung-Hsing, Hwu Wuh-Liang, Lin Shuan-Pei, Chao Mei-Chyn, Tsai Yushin, Tsai Fuu-Jen
Аннотация
BACKGROUND: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the forkhead transcription factor 2 (FOXL2) gene, a member of winged/forkhead transcription factor family, are responsible for both types of BPES. The purpose of this study was to identify mutations in FOXL2 in Taiwanese patients with BPES.
METHODS: The karyotype and genomic DNA was prepared from the leukocytes of peripheral venous blood samples. The coding and flanking region sequences of FOXL2 were analyzed by directed or cloning sequencing.
RESULTS: The karyotypes of these patients did not show significant variation, especially on the 3q23 region. Two mutations in FOXL2 were identified in two familial cases. One was c.855-871dup (17-bp insertion) associated with POF. The other was c.384G>A (TGG>TGA), a novel mutation that resulted in non-sense changes of the encoded protein, i.e., p.W128X.
CONCLUSIONS: Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2 in Taiwanese BPES patients.
METHODS: The karyotype and genomic DNA was prepared from the leukocytes of peripheral venous blood samples. The coding and flanking region sequences of FOXL2 were analyzed by directed or cloning sequencing.
RESULTS: The karyotypes of these patients did not show significant variation, especially on the 3q23 region. Two mutations in FOXL2 were identified in two familial cases. One was c.855-871dup (17-bp insertion) associated with POF. The other was c.384G>A (TGG>TGA), a novel mutation that resulted in non-sense changes of the encoded protein, i.e., p.W128X.
CONCLUSIONS: Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2 in Taiwanese BPES patients.