面肩肱型肌营养不良症家族中D4Z4收缩的复发性体细胞镶嵌现象。

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.

作者信息

Buzhov Borian T, Lemmers Richard J L F, Tournev Ivailo, van der Wielen Michiel J R, Ishpekova Boriana, Petkov Radoslav, Petrova Julia, Frants Rune R, Padberg George W, van der Maarel Silvère M

机构信息

Department of Neurology, Sofia Medical University, Sofia, Bulgaria.

出版信息

Neuromuscul Disord. 2005 Jul;15(7):471-5. doi: 10.1016/j.nmd.2005.03.005.

DOI:10.1016/j.nmd.2005.03.005

PMID:15935668

Abstract

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35. We describe a FSHD family of unusual genetic complexity presenting with two independent mitotic contractions of D4Z4 in two successive generations. In addition, a non-pathogenic FSHD-sized allele of approximately the same size is interfering with the DNA diagnosis in this family. Interestingly, this allele is not recognized by the probes 4qA and 4qB representing two distal variants of 4qter, suggesting the presence of yet another, infrequent variant of 4qter.

摘要

常染色体显性面肩肱型肌营养不良症（FSHD）由4q35上D4Z4重复序列的收缩引起。我们描述了一个遗传复杂性异常的FSHD家系，在连续两代中出现了两次独立的D4Z4有丝分裂收缩。此外，一个大小近似、无致病作用的FSHD等位基因干扰了该家系的DNA诊断。有趣的是，代表4qter两个远端变体的探针4qA和4qB无法识别该等位基因，提示4qter存在另一种罕见变体。