title: Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.
abstract: Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, renal anomaly, that is the triad that features the HDR syndrome. Van Esch (2000) identified in a HDR patient, within a 200 kb critical region, the GATA3 gene, a transcription factor involved in the embryonic development of the parathyroids, auditory system and kidneys. We describe a new male patient, 33-year-old, with 10p partial deletion affected by hypocalcemia, basal ganglia calcifications and a severe autistic syndrome associated with mental retardation. Neurologically he presented severe impairment of language, hypotonia, clumsiness and a postural dystonic attitude. A peripheral involvement of auditory pathways was documented by auditory evoked potentials alterations. CT scan documented basal ganglia calcifications. Hyperintensity of the lentiform nuclei was evident at the MRI examination. Renal ultrasound scan was normal. Haploinsufficiency for GATA3 gene was documented with FISH analysis using cosmid clone 1.2. Phenotypic spectrum observed in del (10p) is more severe than the classical DGS spectrum. GATA3 has been found to regulate the development of serotoninergic neurons. A serotoninergic dysfunction may be linked with autism in this patient.
authors.affiliation: Neurological Institute C. Mondino Foundation, Via Ferrata, 6 27100 Pavia, Italy. annapia.verri@mondino.it
authors.forename: Annapia
authors.initials: A
authors.lastname: Verri
authors.forename: Paola
authors.initials: P
authors.lastname: Maraschio
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: Carla
authors.initials: C
authors.lastname: Uggetti
authors.forename: Emanuela
authors.initials: E
authors.lastname: Spadoni
authors.forename: Edward
authors.initials: E
authors.lastname: Haeusler
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D001480:Basal Ganglia Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics / Q000648:ultrastructure*; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D050990:GATA3 Transcription Factor; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007806:Language Disorders / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D012701:Serotonin / Q000502:physiology; D015534:Trans-Activators / Q000172:deficiency / Q000235:genetics / Q000502:physiology
chemical_list: D004268:DNA-Binding Proteins; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; D015534:Trans-Activators; D012701:Serotonin