Werdnig-Hoffmann disease. The first prenatal diagnosis in Cuba

• Published in: Revista de neurologiá Vol. 29; no. 12; pp. 1172 - 1175
• Main Authors: Acevedo-López, A M, Zaldívar-Vaillant, T, Hernández-Chico, C, Moreno, F, Rosich-Capablanca, G, Guerra-Badía, R
• Format: Journal Article
• Language: Spanish
• Published: Spain 16-12-1999
• Subjects: Chromosomes, Human, Pair 5 - genetics; Cuba; Exons - genetics; Gene Deletion; Gene Expression - genetics; Humans; Pedigree; Point Mutation - genetics; Prenatal Diagnosis - methods; Spinal Muscular Atrophies of Childhood - epidemiology; Spinal Muscular Atrophies of Childhood - genetics; Cuba
• ISSN: 0210-0010
• DOI: 10.33588/rn.2912.99496

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by the degeneration of cells of the spinal cord. The gene was localized on chromosome 5q13 and exists in two almost identical forms, which are distinguished by the change of base on exones 7 and 8. Mutations of the gene of survival motoreneuron (SMN) are the cause of illness.
We report, for the first time in Cuba, the prenatal diagnosis of a type II SMA carrier, using molecular methods for direct detection of the mutation on exones 7 and 8 of the SMN gene, and haplo-identification with microsatellite markers of chromosome 5q as an indirect method. A sample of amniotic liquid was taken at 18 weeks of gestation and the DNA extracted. No deletions were detected on exones 7 and 8 of the foetal DNA, which was therefore normal.
Detection of deletions on the SMN gene is a method which permits detection of the condition (healthy or unhealthy) of the foetus, quickly and reliably, without requiring investigation of the entire family to obtain a result. The method does not require radio-active PCR, the results are clear and precise and may be obtained within 24 hours. It may also take the place of invasive methods such as muscle biopsy and electro-myography and contribute to genetic assessment in families in which there is no DNA of the affected child.