Neurological manifestations of 2q31 microdeletion syndrome.
Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster and some neighboring genes including the ZNF385B. The patient showed digital anomalies, growth failure, epileptic seizures, and intellectual disability. Magnetic resonance imaging showed delayed myelination and low signal intensity in the basal ganglia. The ZNF385B is a zinc finger protein expressed in brain. Disruption of ZNF385B was suspected to be responsible for the neurological features of this syndrome.
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Nobuhiko
N
Okamoto
Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Sadami
S
Kimura
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Keiko
K
Shimojima
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Toshiyuki
T
Yamamoto
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001479:Basal Ganglia / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000737:chemistry / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics*; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D055092:Laryngomalacia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology
D004268:DNA-Binding Proteins; C442019:HOXD1 protein, human; D018398:Homeodomain Proteins; C494418:ZNF385A protein, human
2q31 microdeletion syndrome; HOXD; ZNF385B; intellectual disability