title: MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.
abstract: Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0MB to 43.8MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder.
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors: Mari
authors: M
authors: Saito
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan. Electronic address: takanori@jichi.ac.jp.
authors: Takanori
authors: T
authors: Yamagata
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors: Ayumi
authors: A
authors: Matsumoto
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors: Yusuke
authors: Y
authors: Shiba
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors: Masako
authors: M
authors: Nagashima
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors: Shuhei
authors: S
authors: Taniguchi
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors: Eriko
authors: E
authors: Jimbo
authors: Department of Pediatrics, Jichi Medical Univiversity, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors: Mariko Y
authors: MY
authors: Momoi
mesh_terms: D002395:Catecholamines / Q000097:blood / Q000134:cerebrospinal fluid; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000097:blood / Q000134:cerebrospinal fluid / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D008995:Monoamine Oxidase / Q000172:deficiency*; D009123:Muscle Hypotonia / Q000097:blood / Q000134:cerebrospinal fluid / Q000209:etiology* / Q000235:genetics; D012701:Serotonin / Q000097:blood / Q000134:cerebrospinal fluid; D035781:Siblings
chemical_list: D002395:Catecholamines; D012701:Serotonin; D008995:Monoamine Oxidase; C579458:monoamine oxidase A, human
keywords: Hypotonia; Monoamine oxidase (MAO); Serotonin; Severe developmental delay; Short stature; Sudden loss of muscle tone