A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
A teen with autism carries a never-before-seen missing chunk on chromosome 14, pointing to three new candidate genes.
01Research in Context
What this study did
Doctors looked at one 14-year-old boy who had autism and a blood disease called spherocytosis.
They ran a full chromosome test and found a brand-new 1.5 million-base missing piece on chromosome 14.
The team then listed three genes inside that missing piece—MTHFD1, PLEKHG3, and CHURC1—as possible autism-risk genes.
What they found
The teen is the first person ever reported with this exact deletion.
No one else in his family carries it, so the change is “de novo,” meaning it started with him.
The paper simply flags the spot on chromosome 14 and the three genes; it does not test behavior or treatment.
How this fits with other research
Older screens said chromosome 15q and the sex chromosomes are the hot places for autism changes (C 1998, E et al. 1998).
The new case does not overturn those hotspots—it just adds a rare corner on chromosome 14 to the map.
Two later single-case papers, Nader-Grosbois et al. (2012) and YSánchez-Luquez et al. (2025), used the same method and found different rare deletions, showing the field keeps spotting “one-off” genes instead of one single autism gene.
Why it matters
For day-to-day practice, the paper is a gentle reminder: if a client has autism plus unexplained physical problems, consider a genetics referral. You will not treat the deletion, but the family gains a cause and future studies get new targets. Keep doing your ABA; the genes only explain part of the story.
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02At a glance
03Original abstract
Autism is a neuro-developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive behaviors. Cytogenetic studies have implicated large chromosomal aberrations in the etiology of approximately 5-7% of autism patients, and the recent advent of array-based techniques allows the exploration of submicroscopic copy number variations (CNVs). We genotyped a 14-year-old boy with autism, spherocytosis and other physical dysmorphia, his parents, and two non-autistic siblings with the Illumina Human 1M Beadchip as part of a study of the molecular genetics of autism and determined copy number variants using the PennCNV algorithm. We identified and validated a de novo 1.5 Mb microdeletion of 14q23.2-23.3 in our autistic patient. This region contains 15 genes, including spectrin beta (SPTB), encoding a cytoskeletal protein previously associated with spherocytosis, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a folate metabolizing enzyme previously associated with bipoloar disorder and schizophrenia, pleckstrin homology domain-containing family G member 3 (PLEKHG3), a guanide nucleotide exchange enriched in the brain, and churchill domain containing protein 1 (CHURC1), homologs of which regulate neuronal development in model organisms. While a similar deletion has previously been reported in a family with spherocytosis, severe learning disabilities, and mild mental retardation, this is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk.
Autism research : official journal of the International Society for Autism Research, 2011 · doi:10.1002/aur.186