Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy

被引：16

作者：

Esposito, Gabriella ^{[1
,2
]}

Ruggiero, Raffaella ^{[1
,2
]}

Savarese, Maria ^{[1
,2
]}

Savarese, Giovanni ^{[1
]}

Tremolaterra, Maria Roberta ^{[1
,2
]}

Salvatore, Francesco ^{[1
]}

Carsana, Antonella ^{[1
,2
]}

机构：

[1] Ceinge Biotecnol Avanzate Scarl, I-80145 Naples, Italy

[2] Univ Naples Federico II, Dipartimento Med Mol & Biotecnol Med, Naples, Italy

来源：

CLINICAL CHEMISTRY AND LABORATORY MEDICINE | 2013年 / 51卷 / 12期

关键词：

Duchenne/Becker muscular dystrophy; molecular diagnosis; myotonic dystrophy type 1; prenatal diagnosis; spinal muscular atrophy; MOTOR-NEURON GENE; CTG REPEAT; PROTEIN; DELETIONS; SPECTRUM; CARRIERS;

D O I：

10.1515/cclm-2013-0209

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Background: Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). Methods: We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. Results: We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time. Conclusions: Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

引用

页码：2239 / 2245

页数：7

共 23 条

[1] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].