Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
J Mol Neurosci. 2013 Mar;49(3):614-7. doi: 10.1007/s12031-012-9898-y. Epub 2012 Oct 5.
Familial idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative syndrome with an autosomal dominant pattern of inheritance which is characterized by deposition of calcium in the basal ganglia and other brain regions. Linkage studies demonstrated its genetic heterogeneity; however, the responsible genes are unknown. Recently, a heterozygous variation (C>G, P521A) at exon 20 of the human cutaneous T cell lymphoma-associated antigen 5 (CTAGE5) gene was found in all patients of the affected large American family linked to IBGC1 (14q11.2-21.3). However, no carrier was detected in the two affected Brazilian families. This study was performed to investigate whether the CTAGE5 P521A variation is associated with the IBGC in an affected Iranian family. Genotyping of the CTAGE5 P521A variation was determined using PCR-RFLP. Totally, 22 members of an affected Iranian family as well as 100 normal people as control group were screened. All the samples including 22 members of the affected family as well as all control people had normal CC genotype and no GC carrier was found. Our result is similar to a Brazilian study but contrary to an American report, strengthening genetic heterogeneity of this syndrome. It seems that additional studies are necessary to confirm the pathogenicity of this rare mutation.
家族特发性基底节钙化（IBGC）是一种罕见的神经退行性综合征，呈常染色体显性遗传模式，其特征是钙在基底节和其他脑区沉积。连锁研究表明其具有遗传异质性；然而，其相关基因尚不清楚。最近，在与 IBGC1（14q11.2-21.3）相关的受影响的大型美国家族的所有患者中，发现了人类皮肤 T 细胞淋巴瘤相关抗原 5（CTAGE5）基因第 20 外显子的杂合变异（C>G，P521A）。然而，在两个受影响的巴西家族中未检测到携带者。本研究旨在探讨 CTAGE5 P521A 变异是否与伊朗受影响家族的 IBGC 相关。使用 PCR-RFLP 法对 CTAGE5 P521A 变异进行基因分型。共对一个受影响的伊朗家族的 22 名成员以及 100 名正常人作为对照组进行了筛选。所有样本，包括受影响家族的 22 名成员以及所有对照者均为正常 CC 基因型，未发现 GC 携带者。我们的结果与巴西的研究相似，但与美国的报告相反，这加强了该综合征的遗传异质性。似乎需要进一步研究来证实这种罕见突变的致病性。
