title: Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.
abstract: Periventricular nodular heterotopia (PNH) with overlying polymicrogyria (PMG) is a recently described, developmental brain malformation; however, the causative genes of this malformation have not yet been identified. We report on a 5-year-old Japanese male with bilateral PNH with overlying PMG. He had mild intellectual disability, distinctive facial features, short stature, and microcephaly, with cardiac disorders. No mutation was identified in Sanger sequences for FLNA and ARFGEF2; however, array comparative genomic hybridization revealed an approximately 0.8Mb gain at Xq26.1-26.2, which included three genes: IGSF1, OR13H1, and FIRRE. We identified the same 3-copy gain in his mother; despite identifying the same abnormality in the mother, it must still be considered as a possible cause for the abnormalities, as X-inactivation in the mother could have led to her not expressing the same phenotype. This case may provide important clues for identifying the genes responsible and help in the understanding of the pathogenesis of this disorder.
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.|Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Yu
authors: Y
authors: Abe
authors: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Atsuo
authors: A
authors: Kikuchi
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Satoru
authors: S
authors: Kobayashi
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Keisuke
authors: K
authors: Wakusawa
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Soichiro
authors: S
authors: Tanaka
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors: Takehiko
authors: T
authors: Inui
authors: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
authors: Shinji
authors: S
authors: Kunishima
authors: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Shigeo
authors: S
authors: Kure
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.|Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Kazuhiro
authors: K
authors: Haginoya
mesh_terms: D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D054091:Periventricular Nodular Heterotopia / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D065706:Polymicrogyria / Q000150:complications* / Q000235:genetics*; D025064:Sex Chromosome Disorders / Q000150:complications*