A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 (SMN1). We report a case in which the patient has two copies of SMN1 but clinically presents as Type 0 SMA. The patient is an African American male carrying a homozy...

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Bibliographic Details
Main Authors: Leping Li, Lalith Perera, Sonia A. Varghese, Yael Shiloh-Malawsky, Senyene E. Hunter, Tam P. Sneddon, Cynthia M. Powell, A. Gregory Matera, Zheng Fan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Cellular Neuroscience
Subjects:
spinal muscular atrophy (SMA)
c.796T>C variant
g.27134T>G polymorphism
African American
non-deletion
modeling
Online Access:https://www.frontiersin.org/articles/10.3389/fncel.2023.1259380/full

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https://www.frontiersin.org/articles/10.3389/fncel.2023.1259380/full

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