| Geno
|
Mag
|
Summary
|
| (A;A)
|
2.9
|
possible association with stuttering
|
| (A;G)
|
2.9
|
possible association with stuttering
|
| (G;G)
|
0
|
common/normal
|
rs137853825, also known as c.3598G>A, Glu1200Lys or E1200K, is a variant in the GNPTAB gene on chromosome 12.
The minor (A) allele of rs137853825 was the most common of several mutations in the GNPTAB gene associated with stuttering in a 2010 study. Note that inheritance was neither dominant or recessive; this variant increased the risk of stuttering when present in either one or two copies, consistent with an additive genetic effect. Female homozygotes were apparently less affected. Note that the proportion of stutterers likely to carry a GNPTAB variant is likely to be less than 4%.[PMID 20147709
]
In 2016, 3- to 8-day old mice pups engineered to carry two copies of the Glu1200Lys mutation were observed to have significantly longer pauses in their spontaneous vocalizations than littermates not carrying the mutations, consistent with some features of human stuttering.10.1016/j.cub.2016.02.068
]
