Clinical manifestations and prenatal diagnosis of congenital muscular dystrophy

• DOI: 10.3760/cma.j.issn.1007-9408.2017.09.011
• Publication Date: 2017-09-16
• Authors: Yanbin Fan; Xiaona Fu; Ge Lin; Hui Jiao; Haipo Yang; Dandan Tan; Aijie Liu; Shujuan Song; Yinan Ma; Hong Pan; Huixia Yang; Jingmin Wang; Hui Xiong
• Keywords: Proband; Compound heterozygosity

Objective To summarize the clinical features of 22 probands diagnosed with congenital muscular dystrophy (CMD), and to provide genetic counseling prenatal diagnosis for 23 fetuses these pedigrees.

Methods Data CMD patients who were treated in Pediatric Department Peking University First Hospital during October 2006 March 2016 analyzed. Informed written consents participation this study obtained from parents or guardians. Prenatal was performed using DNA samples extracted fetal villus cells 12 cases at 11-13 gestational weeks amniotic fluid 11 18-22 weeks. Direct sequencing by polymerase chain reaction (PCR) multiplex ligation-dependent probe amplification (MLPA) used detect CMD-related gene mutations. Linkage analysis short tandem repeats (STRs) identify maternal blood contamination biological parents.

Results Thirteen out type 1A (MDC1A), all them carried compound heterozygous mutations LAMA2 gene. 13 pedigrees found that four wild-type, seven heterozygotes two same as their proband. Three LMNA-related (L-CMD) de novo LMNA In pedigrees, wild-type one whose mother mosaicism One proband Ullrich COL6A2 fetus pedigree wild-type. Five α-dystroglycanopathies. And among them, muscle-eye-brain disease (MEB) POMGnT1 peidgrees heterozygotes; case 1C (MDC1C) had FKRP mutations; patient POMGnT1-related mental retardation (CMD-MR) gene, positive POMT1-related CMD-MR POMT1 results showed first proband, while second heterozygote.

Conclusions No effective therapeutic method is available CMD. Therefore, accurate are necessary prevent child birth.

Key words: Muscular dystrophies; Prenatal diagnosis; Genetic testing