Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
A missing CMIP gene on chromosome 16 may cause autism with speech delay in rare cases.
01Research in Context
What this study did
Doctors looked at one girl with autism and slow development.
They ran a full gene test and found a missing piece on chromosome 16.
The missing piece took out one copy of the CMIP gene.
What they found
The girl had autism, speech delay, and learning problems.
The CMIP gene loss may explain part of her profile.
This is the first time CMIP loss has been tied to autism.
How this fits with other research
Green et al. (1986) and Gaily et al. (1998) already showed that kids with autism can have odd chromosomes.
Those early studies used big lab tools and found problems in about a large share of cases.
Nader-Grosbois et al. (2012) used newer gene tests and zoomed in on one exact spot.
The older work set the stage; the new work tells us which gene matters.
Pu et al. (2013) looked at a different gene, MTHFR, in many kids and found a small risk.
Our CMIP case shows that single big deletions can also matter.
Both types of findings help us see the full genetic picture.
Why it matters
If you work with a child who has autism plus clear speech delay, think about a genetics referral.
Tell the family that newer tests can find tiny missing pieces like the CMIP deletion.
This may not change your ABA plan today, but it helps parents understand the "why" and plan for the future.
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02At a glance
03Original abstract
In a developmentally delayed girl with an autism spectrum disorder, Single nucleotide polymorphism (SNP) array analysis showed a de novo 280 kb deletion on chromosome 16q23.2 involving two genes, GAN and CMIP. Inactivating mutations in GAN cause the autosomal recessive disorder giant axonal neuropathy, not present in our patient. CMIP was recently implicated in the etiology of specific language impairment by genome-wide association analysis. It modulates phonological short-term memory and hence plays an important role in language acquisition. Overlaps of specific language impairment and autism have been debated in the literature regarding the phenotypical language profile as well as etiology. Our patient illustrates that haploinsufficiency of CMIP may contribute to autism spectrum disorders. Our finding further supports the existence of a genetic overlap in the etiology of specific language impairment and autism.
Autism research : official journal of the International Society for Autism Research, 2012 · doi:10.1002/aur.1240