PDF(Pubmed)
Abstract：
Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant disorder with symptoms from many different parts of the body, including nails, knees, elbows, pelvis, kidneys and eyes. It is caused by truncating variants in the LMX1B gene, which encodes a transcription factor with important roles during embryonic development, including dorsoventral patterning of the limbs. To our knowledge, inversions disrupting the LMX1B gene have not been reported. Here, we report a family with an inversion disrupting the LMX1B gene in five affected family members with mild but variable clinical features of NPS. Our finding demonstrates that genomic rearrangements must be considered a possible cause of NPS.
摘要：
指甲髌骨综合征（NPS，OMIM＃161200）是一种罕见的常染色体显性疾病，症状来自身体的许多不同部位，包括指甲,膝盖,肘部,骨盆,肾脏和眼睛。它是由LMX1B基因中的截断变体引起的，它编码一种在胚胎发育过程中具有重要作用的转录因子，包括四肢腹侧的图案。据我们所知,尚未报道破坏LMX1B基因的倒位。这里,我们报道了一个家族,在5个受影响的家族成员中,其LMX1B基因的倒位破坏具有轻度但可变的NPS临床特征.我们的发现表明，基因组重排必须被认为是NPS的可能原因。
