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An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.

Authors:
Michelle Falcone Kemal O Yariz David B Ross Joseph Foster Ibis Menendez Mustafa Tekin

PLoS One 2013 6;8(12):e82810. Epub 2013 Dec 6.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three children having non-syndromic mild or moderate ID without seizures. Whole-exome sequencing of three affected siblings revealed a three base pair deletion (c.4202_4204delTTC) located in a 19 mb autozygous region on chromosome 1, leading to an amino acid deletion (p.Phe1401del) in SZT2. All three children were homozygous for the deletion and their parents were heterozygous as expected in autosomal recessive inheritance. SZT2 is highly expressed in neuronal tissues and regulates seizure threshold and neuronal excitation in mice. We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate ID without seizures.

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Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082810PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855772PMC
July 2014

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Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran. Electronic address:

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