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首页> 外文期刊>European journal of medical genetics >The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.
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The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

机译:12q14微缺失综合症:更多患者以及HMGA2是人类身高重要遗传决定因素的进一步证据。

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摘要

Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and uniform phenotype encountered in this disorder and refines the critical region to a 2.61 Mb interval on 12q14.3, encompassing 10 RefSeq genes. We have previously shown that LEMD3 haploinsufficiency is responsible for the Buschke-Ollendorff lesions and now provide strong evidence that a heterozygous deletion of HMGA2 is causing the growth failure observed in this disorder. The identification of an intragenic HMGA2 deletion in a boy with proportionate short stature and the cosegregation of this deletion with reduced adult height in the extended family of the boy further underscore the role of HMGA2 in regulating human linear growth.
机译:12q14微缺失综合症的特征包括出生体重低,failure壮成长,身材矮小,学习障碍以及骨骼和皮肤的Buschke-Ollendorff病变。这份关于另外两名患有这种微缺失综合症的患者的报告强调了在这种疾病中遇到的相当恒定和统一的表型,并在12q14.3上将关键区域细化为2.61 Mb区间,涵盖10个RefSeq基因。我们以前已经证明LEMD3单倍体不足是造成Buschke-Ollendorff病变的原因,现在提供了有力的证据表明,HMGA2的杂合缺失会导致这种疾病的生长失败。在身材矮小的男孩中鉴定基因内HMGA2缺失,以及在该男孩的大家庭中这种缺失与成年身高降低的共隔离进一步强调了HMGA2在调节人类线性生长中的作用。

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