在一个以颅颈或上肢起病的意大利家族中，在1号染色体1p36区域鉴定出一个新的原发性扭转性肌张力障碍基因座（DYT13）。

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset.

作者信息

Valente E M, Bentivoglio A R, Cassetta E, Dixon P H, Davis M B, Ferraris A, Ialongo T, Frontali M, Wood N W, Albanese A

机构信息

Institute of Neurology, London, UK.

出版信息

Neurol Sci. 2001 Feb;22(1):95-6. doi: 10.1007/s100720170063.

DOI:10.1007/s100720170063

PMID:11487218

Abstract

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion. Three PTD loci (DYT1, DYT6 and DYT7) have been identified to date. However, in several PTD families linkage to the known loci has been excluded. We identified an Italian PTD family with 11 definitely affected members. Phenotype was characterised by juvenile or early-adult onset, prominent cranial-cervical and upper limb involvement, mild course and occasional generalisation. A genome-wide search performed in the family identified a novel PTD locus (DYT13) within a 22-cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 (theta = 0) between the disease and marker D1S2667.

摘要

原发性扭转性肌张力障碍（PTD）是一组临床和遗传异质性的运动障碍，通常以常染色体显性方式遗传。迄今为止，已确定了三个PTD基因座（DYT1、DYT6和DYT7）。然而，在几个PTD家族中，与已知基因座的连锁关系已被排除。我们鉴定了一个有11名明确受累成员的意大利PTD家族。其表型特征为青少年或成年早期发病，主要累及颅颈和上肢，病程较轻且偶尔会全身性发作。对该家族进行的全基因组搜索在1号染色体短臂上一个22厘摩的区间内确定了一个新的PTD基因座（DYT13），疾病与标记物D1S2667之间的最大对数优势得分为3.44（θ = 0）。