Researchers have identified a gene in which a loss of function could contribute to aspects of Prader-Willi syndrome and possibly complex autism, according to data reported in Nature Genetics.
“Here we report the first individuals with point mutations in a protein-coding gene within the [Prader-Willi syndrome] domain,” Christian P. Schaaf, MD, of the department of molecular and human genetics at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, and colleagues wrote. “This study speaks to the value of collaboration and the power of the whole genome testing,” Schaaf added in a press release.
Prader-Willi syndrome occurs when the there is an absence of paternally expressed, maternally silenced genes at 15q11-q13 domain, according to researchers. To diagnose one patient’s unique variability in symptoms, Schaaf and colleagues turned to the results of 1,248 cases in a clinical laboratory.
Of those, three other patients with the MAGEL2 gene were identified with autism spectrum disorder, intellectual disability and a varying degree of clinical and behavioral features of Prader-Willi syndrome according to data.
“Given the functional hemizygosity for this gene, a truncating mutation on the paternal allele leaves affected individuals without functional expressed MAGEL2, rendering the mutation potentially pathogenic,” the researchers wrote. “All four subjects reported here had a diagnosis of [autism spectrum disorder] on the bases of DSM-IV … criteria and clinical evaluation by an expert. This shared feature suggests that MAGEL2 is an additional gene in the ever-growing list of autism susceptibility genes.”
The researchers wrote that the MAGEL2 gene should be considered in sequencing or exome sequencing when screening for autism, especially when patients display a history of neonatal hypotonia, feeding difficulties or hypogonadism.
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