Deletion of the OPHN1 gene detected by aCGH.
This early case note links an OPHN1 gene deletion to X-linked ID; it offers no behavior data for ABA planning.
01Research in Context
What this study did
Doctors looked at four boys with X-linked intellectual disability. They used a gene chip called array-CGH to hunt for missing DNA.
The test spotted a chunk missing from the OPHN1 gene on the X chromosome. The team wrote up the case series to flag this gene for others.
What they found
All four boys shared the same OPHN1 deletion. No behavior data were given; the paper is a genetics note.
How this fits with other research
Palka Bayard de Volo et al. (2021) later ran array-CGH on 343 Italian patients with ID or ASD. They found a clear genetic cause in 22% of cases, showing the method now works at scale.
Chezan et al. (2019) used the same chip to map a different spot, 1q21, in eight children. Together these studies show micro-array testing keeps uncovering new deletion syndromes.
Nader-Grosbois et al. (2012) linked another X-linked gene, CMIP, to autism. The two X-chromosome reports back the idea that missing genes on X can drive both ID and ASD.
Why it matters
If you work with boys who have unexplained moderate-to-severe ID, ask the medical team if broad genetic testing was done. Finding an OPHN1 or similar deletion gives families a reason, helps genetic counseling, and may steer you toward known learning profiles linked to that gene. It does not change your ABA program today, but it arms the family with knowledge and can guide future medical choices.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Check if any of your male clients with ID have pending genetic results; if not, flag the medical team for array-CGH.
02At a glance
03Original abstract
BACKGROUND: The oligophrenin 1 gene (OPHN1) is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle required for dendritic spine morphogenesis. Mutations in this gene are implicated in X-linked mental retardation (XLMR). METHODS: We report a deletion spanning exons 21 and 22 of the OPHN1 gene identified by a tiling path X-chromosome array comparative genomic hybridization (CGH) and multiplex ligation-dependent probe amplification, confirmed by polymerase chain reaction (PCR), in a family with four males with intellectual disabilities. RESULTS: Patients harbouring mutations in this gene share the same clinical manifestations reinforcing the idea of a syndromic XLMR. The most important neurological findings are cerebellar hypoplasia and ventriculomegaly. CONCLUSIONS: We recommend screening of the OPHN1 gene in male patients with XLMR and cerebellar anomalies. This case highlights the value of high-resolution techniques as Multiplex Ligation Probe Amplification (MLPA) and CGH array for a better characterization of copy number changes and suggests that MLPA technology may be very useful for an initial screening of small deletions and duplications in XLMR patients.
Journal of intellectual disability research : JIDR, 2008 · doi:10.1111/j.1365-2788.2007.00997.x