徳島大学 教育・研究者情報データベース(EDB)

1. 森 達夫([徳島大学.大学院医歯薬学研究部.医学域.先端医学教育研究プロジェクト]/[徳島大学.大学院医歯薬学研究部.医学域.医科学部門.内科系.小児科学]/[徳島大学.病院.診療科.小児·周産·女性科.小児科])

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2. 東田 好広

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3. 伊藤 弘道

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4. 森 健治([徳島大学.大学院医歯薬学研究部.保健学域.保健科学部門.看護学系.子どもの保健・看護学]/[徳島大学.医学部.保健学科.看護学専攻.母性·小児看護学講座])

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5. (英) Kohmoto Tomohiro / (日) 河本 知大 / (読) こうもと ともひろ

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6. 井本 逸勢

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7. 香美 祥二([徳島大学])

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(英) A 16q22.2-q23.1 deletion identified in a male infant with West syndrome.

(英) In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10months after birth. Although phenobarbital, sodium valproate (VPA), and zonisamide were not effective as monotherapies or combination therapies, the patient's epileptic seizures and electroencephalogram anomalies disappeared following combined therapy with lamotrigine and VPA. Although WW Domain Containing Oxidoreductase (WWOX), which is known as a cause of autosomal recessive epileptic encephalopathy, was included within the 6.8-Mb deleted region which identified by targeted panel sequencing and validated by chromosomal microarray analysis, no pathogenic variants were detected in the other allele of WWOX. Therefore, it is possible that other genes within or outside of the long deleted region or their interactions may cause West syndrome in this patient.

1. (英) PublicationType: Journal Article