RAMBAM-HASHARON SYNDROME OF PSYCHOMOTOR RETARDATION, SHORT STATURE, DEFECTIVE NEUTROPHIL MOTILITY, AND BOMBAY PHENOTYPE
RAMBAM-HASHARON SYNDROME OF PSYCHOMOTOR RETARDATION, SHORT STATURE, DEFECTIVE NEUTROPHIL MOTILITY, AND BOMBAY PHENOTYPE
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DOI：
10.1002/ajmg.1320440307
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发表时间：
1992-10-01
期刊：
影响因子：
--
通讯作者：
GERSHONIBARUCH, R
中科院分区：
文献类型：
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作者：
FRYDMAN, M;ETZIONI, A;GERSHONIBARUCH, R
我们描述了2名阿拉伯患者，都是不相关的近亲交配的后代，具有不寻常的面部外观，严重的精神发育迟滞，小头畸形，皮质萎缩，癫痫发作，肌张力减退，侏儒症，和反复感染嗜中性粒细胞。神经元运动明显减少，但调理吞噬活性正常。两例患者均缺乏红细胞（RBC）H抗原，并表现出孟买（hh）表型。家族性内膜增生性纤维弹性组织增生症和家族性法洛四联症在一个家族中独立分离。在两个无关的家庭中发生相同的综合征表明，该疾病的各个方面是单一突变的多效性效应。纯合性由血统缺失涉及连续基因可能解释的结果，在这种综合征。或者，涉及普遍存在的GDP岩藻糖供体而不是酶（α 2-L-岩藻糖基转移酶）或其底物（glcNAc）的突变可能是该综合征多效性表现的原因。
We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (alpha2-L-fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome.