Prenatal prediction of spinal muscular atrophy.

Daniels, R. J.; Suthers, G K; Morrison, Karen; Thomas, Neil H.; Francis, Michael J.; Mathew, Christopher; Loughlin, S. A. R.; Heiberg, Arvid; Wood, Douglas; Dubowitz, Victor

doi:10.1136/jmg.29.3.165

Cited by 40 publications

(24 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Centromeric to telomeric, informative linkage markers that have been reported are as follows: D5S679, D5S680, D5S125, D5S681, D5S435, D5S629, D5S823, D5S1556/ D5F150 (intragenic/SMN1 promoter region), D5S149 (intragenic/SMN1 promoter region), (SMN1), D5S557, D5S610, D5S351, 5'-MAP1B, 3'-MAP1B, D5S112, D5S127, and D5S539 (Brahe et al 1994;Burghes et al 1994;Daniels et al 1992;Morrison et al 1993;; for a review, see Scheffer et al 2001). Even after identification of the disease gene by Lefebvre et al (1995), linkage analysis remains an important tool in certain scenarios (Chen et al 1999;Zeesman et al 2002) as discussed below.…”

Section: Linkage Analysismentioning

confidence: 98%

“…The localization of the SMA critical region allowed linkage analysis to be used as the first genetic test for SMA (Brahe et al 1994;Burghes et al 1994;Clermont et al 1994;Daniels et al 1992;Melki et al 1994;Morrison et al 1993;Soares et al 1993;Wirth et al 1994). Centromeric to telomeric, informative linkage markers that have been reported are as follows: D5S679, D5S680, D5S125, D5S681, D5S435, D5S629, D5S823, D5S1556/ D5F150 (intragenic/SMN1 promoter region), D5S149 (intragenic/SMN1 promoter region), (SMN1), D5S557, D5S610, D5S351, 5'-MAP1B, 3'-MAP1B, D5S112, D5S127, and D5S539 (Brahe et al 1994;Burghes et al 1994;Daniels et al 1992;Morrison et al 1993;; for a review, see Scheffer et al 2001).…”

Section: Linkage Analysismentioning

confidence: 99%

See 1 more Smart Citation

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

2002

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typical SMA. Approximately 30 small intragenic SMN1 mutations have also been described. These mutations are present in many of the approximately 6% of SMA patients who do not lack both copies of SMN1, whereas SMA of other patients without a homozygous absence of SMN1 is unrelated to SMN1. A commonly used polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) assay can be used to detect a homozygous absence of SMN1 exon 7. SMN gene dosage analyses, which can determine the copy numbers of SMN1 and SMN2 (an SMN1 homolog and a modifier for SMA), have been developed for SMA carrier testing and to confirm that SMN1 is heterozygously absent in symptomatic individuals who do not lack both copies of SMN1. In conjunction with SMN gene dosage analysis, linkage analysis remains an important component of SMA genetic testing in certain circumstances. Genetic risk assessment is an essential and integral component of SMA genetic testing and impacts genetic counseling both before and after genetic testing is performed. Comprehensive SMA genetic testing, comprising PCR-RFLP assay, SMN gene dosage analysis, and linkage analysis, combined with appropriate genetic risk assessment and genetic counseling, offers the most complete evaluation of SMA patients and their families at this time. New technologies, such as haploid analysis techniques, may be widely available in the future.

show abstract

Section: Linkage Analysismentioning

confidence: 98%

Section: Linkage Analysismentioning

confidence: 99%

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

2002

View full text Add to dashboard Cite

show abstract

“…In addition to the myotonic dystrophy CTG repeat, the two SCN4A microsatellites, and the TCRB microsatellite, nine other microsatellite markers (the spinocerebellar ataxia one SCA117 and three SCA318 and dentatorubral pallidoluysian atrophy DRPLA19 triplet repeats; the D5S125,20D5S127,21 JK53CA,20 EF13/14,20microsatellites from the spinal muscular atrophy region on chromosome 5, and the intron 45 and 49 microsatellites within the dystrophin gene22 ) were tested on the family. There was no evidence of sample errors.…”

Section: Case Reportsmentioning

confidence: 99%

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

Mastaglia

Harker

Phillips

et al. 1998

Journal of Neurology, Neurosurgery & Psychiatry

View full text Add to dashboard Cite

A two generation family of Greek origin with mild myotonia, predominantly proximal muscle weakness, and cataracts compatible with the syndrome of proximal myotonic myopathy, is reported. In addition, brain MRI showed a diVuse leukoencephalopathy in the propositus. Molecular genetic studies showed the R894X mutation in exon 23 of the muscle chloride channel gene in the propositus but in only one of her two clinically aVected offspring, indicating that it is not the mutation causing disease in this family. (J Neurol Neurosurg Psychiatry 1998;64:543-547)

show abstract

“…Since Daniels et al performed the first prenatal diagnosis of SMA1 in 1992 [14], SMN1 gene deletions have been found in more than 98% of patients with SMA [15], and point mutations have also been reported [7]. The pathogenesis of SMA involves SMN1 gene dysfunction, and the severity of SMA is related to SMN2 gene dysfunction [16].…”

Section: Discussionmentioning

confidence: 99%

A Case Report of a Pregnant Gene Carrier of Spinal Muscular Atrophy

Kondo¹,

Matsubara²,

Matsubara³

et al. 2015

Int J Gynecol Clin Pract

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalized weakness. It is caused by gene deletions or other mutations in the survival motor neuron 1 gene on chromosome 5q13. There are three types of SMA. Of these types, SMA type 1 (SMA1) is distinguished by the disease onset before 6 months of age and death within the first two years of life. We report a case study of a pregnant SMA1 gene carrier for whom a prenatal diagnosis was performed. The woman delivered a healthy baby, and she was free of anxiety due to the prenatal diagnosis. The case was a 34-year-old woman with a history of giving birth to children with SMA1(3 gravida 2 para). The first baby was diagnosed with SMA1 and died 9 months later. During her second pregnancy, the fetus was prenatally diagnosed with SMA1, and the parents chose to have an artificial abortion. In her third pregnancy, the fetus was prenatally diagnosed as a gene carrier of SMA1 and was delivered. During her fourth pregnancy, a prenatal diagnosis was performed using amniocentesis after genetic counseling, and the fetus was diagnosed as a gene carrier of SMA1. A 3.310 g female baby was delivered with Apgar scores of 9 at 1 minute and 9 at 5 minutes. When a prenatal diagnosis of SMA is performed, various guidelines should be followed, and the patient should be provided with genetic counseling.

show abstract

Prenatal prediction of spinal muscular atrophy.

Cited by 40 publications

References 15 publications

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

Genetic testing and risk assessment for spinal muscular atrophy (SMA)

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

A Case Report of a Pregnant Gene Carrier of Spinal Muscular Atrophy

Contact Info

Product

Resources

About