Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications

Annapia Verri , Paola Maraschio , Koen Devriendt , Carla Uggetti , Emanuela Spadoni , Edward Haeusler , Antonio Federico
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引用次数: 24

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.

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甲状旁腺功能减退、严重智力低下、自闭症及基底神经节钙化患者染色体10p缺失1例
染色体10p末端缺失与迪乔治样表型有关。10p14-pter区域单倍体功能不全导致甲状旁腺功能减退、感音神经性耳聋、肾异常,这是HDR综合征的三位一体特征。Van Esch(2000)在一名HDR患者的200 kb关键区域内发现了GATA3基因,这是一种参与甲状旁腺、听觉系统和肾脏胚胎发育的转录因子。我们描述了一个新的男性患者,33岁,10p部分缺失影响低钙,基底神经节钙化和严重的自闭症综合征与智力低下。神经学上,他表现出严重的语言障碍、张力低下、笨拙和体位张力障碍。通过听觉诱发电位的改变证实了外周听觉通路的受累。CT显示基底神经节钙化。在MRI检查中可见高强度的透镜状核。肾脏超声扫描正常。使用cosmid克隆1.2进行FISH分析,发现GATA3基因单倍不全。在del (10p)中观察到的表型谱比经典DGS谱更严重。GATA3已被发现调节血清素能神经元的发育。该患者的血清素功能障碍可能与自闭症有关。
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