title: West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
abstract: FOXG1 on chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of chromosome 14 and West syndrome who carried a small supernumerary marker chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization analysis confirmed that the marker chromosome was derived from chromosome 14. A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on chromosome 14 confirmed that the patient had maternal uniparental disomy 14 as well as a mosaic small marker chromosome of paternal origin containing the proximal long arm of chromosome 14. Microarray-based comparative genomic hybridization analysis conclusively defined the region of the gain of genomic copy numbers at 14q11.2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms.
authors: Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Japan. jtohyama@masa.go.jp
authors: Jun
authors: J
authors: Tohyama
authors: Toshiyuki
authors: T
authors: Yamamoto
authors: Kana
authors: K
authors: Hosoki
authors: Keisuke
authors: K
authors: Nagasaki
authors: Noriyuki
authors: N
authors: Akasaka
authors: Tsukasa
authors: T
authors: Ohashi
authors: Yu
authors: Y
authors: Kobayashi
authors: Shinji
authors: S
authors: Saitoh
mesh_terms: D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D018895:Microsatellite Repeats / Q000235:genetics; D009030:Mosaicism; D009419:Nerve Tissue Proteins / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics* / Q000473:pathology*; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins