Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

Human Molecular Genetics
E HahnenB Wirth

Abstract

Proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of anterior horn cells in the spinal cord leading to weakness and wasting of voluntary muscles. Here we present the molecular analysis of both SMA candidate genes, the survival motor neuron gene (SMN; exons 7 and 8) and the neuronal apoptosis inhibitory protein gene (NAIP; exons 5, 6 and 13), in 195 patients and 348 parents of SMA families mainly of German origin. The SMN gene is homozygously deleted for both exons 7 and 8 or exon 7 only in 96% of type I SMA, 94% of type II SMA and 82% of type III SMA as well as in 0.3% of SMA parents. The NAIP gene is homozygously deleted in 46% of type I SMA, 17% of type II SMA, 7% of type III SMA and 2% of SMA parents. The frequencies of deletions in patients for both genes, SMN and NAIP, correspond to those for the NAIP gene only. SMA patients of this series who did not show deletions were clinically indistinguishable from deleted patients. In addition to one unaffected mother of a type II SMA patient, we found homozygous deletions of the SMN gene exons 7 and 8 in six further unaffected individuals, all sibs of type II and III patients. These belonged to four families ...Continue Reading

Citations

Jul 27, 1999·Prenatal Diagnosis·S P LinC J Hu
Mar 11, 1999·Annals of Neurology·T O CrawfordR I Kelley
Jan 1, 1996·Journal of Inherited Metabolic Disease·H ErdemZ Akçören
Apr 5, 2001·Journal of Biomedical Science·M Z HaiderL Reynold
Nov 8, 2008·Current Treatment Options in Neurology·Ching H Wang, Mitchell R Lunn
Sep 3, 2013·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Sebastian Lunke, Assam El-Osta
Aug 14, 1996·Biochimica Et Biophysica Acta·K E MorrisonA J Brookes
Sep 1, 1996·Pediatric Neurology·R PonsD C De Vivo
Feb 7, 1998·Journal of the Neurological Sciences·S M Chou, H S Wang
Jul 17, 1998·Journal of the Neurological Sciences·S Al RajehA Snellen
Jun 14, 2002·Neuromuscular Disorders : NMD·Albena JordanovaLuba Kalaydjieva
Dec 1, 1996·Neuromuscular Disorders : NMD·K E Morrison
May 1, 1997·Neuromuscular Disorders : NMD·K ZerresS Rudnik-Schöneborn
Mar 14, 2008·European Journal of Human Genetics : EJHG·Maria JedrzejowskaIrena Hausmanowa-Petrusewicz
Aug 12, 2009·Genetic Testing and Molecular Biomarkers·Seong-Ho KangSung Sup Park
Nov 18, 2008·Human Molecular Genetics·Kathrin MeyerDaniel Schümperli
Mar 17, 2012·Human Molecular Genetics·Saif AhmadLaxman Gangwani
Feb 13, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Matthew D MailmanThomas W Prior
Nov 30, 1999·Acta Neurologica Scandinavica·H NishioK Sumino
Apr 1, 1996·Journal of Medical Genetics·P BurletJ Melki
Jan 1, 1997·Journal of Medical Genetics·V RaclinJ Melki
Feb 16, 2013·Genetics and Molecular Biology·Fernanda Marques de Souza GodinhoMaria Luiza Saraiva-Pereira

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cajal Bodies & Gems

Cajal bodies or coiled bodies are dense foci of coilin protein. Gemini of Cajal bodies, or gems, are microscopically similar to Cajal bodies. It is believed that Cajal bodies play important roles in RNA processing while gems assist the Cajal bodies. Find the latest research on Cajal bodies and gems here.

Aphasia

Aphasia affects the ability to process language, including formulation and comprehension of language and speech, as well as the ability to read or write. Here is the latest research on aphasia.

Cachexia & Brown Fat

Cachexia is a condition associated with progressive weight loss due to severe illness. In cancer patients, it is proposed to occur as a result of tumor-induced energy wasting. Several proteins have been implicated in browning and depletion of white adipose tissue. Here is the latest research on cachexia and brown fat.

Cardiac Cachexia

Cardiac cachexia is a syndrome associated with the progressive loss of muscle and fat mass. It most commonly affects patients with heart failure and can significantly decrease the quality of life and survival in these patients. Here is the latest research on cardiac cachexia.