caa a22 4500 397573960 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199603 xx s 000 0 eng 10.1093/hmg/5.3.359 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.3.359 Characterization of Survival Motor Neuron (SMNT) Gene Deletions in Asymptomatic Carriers of Spinal Muscular Atrophy [Elektronische Daten] [Ching H. Wang, Jin Xu, Todd A. Carter, Barbara M. Ross, Mary K. Dominski, Cecelia A. Bellcross, Graciela K. Penchaszadeh, Theodore L. Munsat, T. Conrad Gilliam] Previous reports have established that the telomeric copy of the survival motor neuron (SMNT) gene and the intact copy of the neuronal apoptosis inhibitory protein (NAIP) gene are preferentially deleted in patients with spinal muscular atrophy (SMA). Although deletions or mutations in the SMNT gene are most highly correlated with SMA, it is not clear to what extent NAIP or other genes influence the SMA phenotype, or whether a small fraction of SMA patients actually have functional copies of both SMNT and NAIP. To evaluate further the part of SMNT in the development of SMA, we analyzed 280 asymptomatic SMA family members for the presence or absence of SMNT exons 7 and 8. We report the following observations: (i) 4% of the sample harbored a polymorphic variant of SMNT exon 7 that looks like a homozygous deletion; (ii) approximately 1% of the parents are homozygously deleted for both exons 7 and 8; (iii) one asymptomatic parent lacking both copies of SMNT exons 7 and 8 displays a ‘subclinical phenotype' characterized by mild neurogenic pathology; (iv) another asymptomatic parent lacking both SMNT exons showed no signs of motor neuron disorder by clinical and neurodiagnostic analyses. The demonstration of polymorphic variants of exon 7 that masquerade as homozygous nulls, and the identification of SMA parents who harbor two disease alleles, serve as a caution to those conducting prenatal tests with these markers. © 1996 Oxford University Press Wang Ching H. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut Xu Jin Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut Carter Todd A. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut Ross Barbara M. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut Dominski Mary K. Dean Medical Center, Madison, WI, USA aut Bellcross Cecelia A. Dean Medical Center, Madison, WI, USA aut Penchaszadeh Graciela K. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut Munsat Theodore L. Department of Neurology, Tufts University and New England Medical Center, Boston, MA, USA aut Conrad Gilliam T. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut Human Molecular Genetics Oxford University Press 5/3(1996-03), 359-365 0964-6906 5:3<359 1996 5 hmg https://doi.org/10.1093/hmg/5.3.359 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.3.359 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wang Ching H. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut NATIONALLICENCE 700 1- Xu Jin Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut NATIONALLICENCE 700 1- Carter Todd A. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut NATIONALLICENCE 700 1- Ross Barbara M. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut NATIONALLICENCE 700 1- Dominski Mary K. Dean Medical Center, Madison, WI, USA aut NATIONALLICENCE 700 1- Bellcross Cecelia A. Dean Medical Center, Madison, WI, USA aut NATIONALLICENCE 700 1- Penchaszadeh Graciela K. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut NATIONALLICENCE 700 1- Munsat Theodore L. Department of Neurology, Tufts University and New England Medical Center, Boston, MA, USA aut NATIONALLICENCE 700 1- Conrad Gilliam T. Departments of Genetics and Development and Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/3(1996-03), 359-365 0964-6906 5:3<359 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford