CONCLUSION
Dissecting the genetic architecture will not only contribute to a better
understanding of the etiology of stuttering but also facilitate the
identification of new targets with implications to prevention, diagnosis
and treatment. Using ES, we generated an enriched list of 14 target
genes (COL4A2, COL6A3, COL6A6, ITGAX, LAMA5, ADAMTS9, CSGALNACT1,
TMOD2 , HTR2B , RSC1A1 , TRPV2, WNK1 , ARSD andSPTBN5) involved in neural related pathways, in the two multiplex
families studied. We propose that these 14 genes having role in
signaling and transport may be putatively linked to stuttering. However
in STU 65 family, a homozygous variant in NLRP11 gene and a
heterozygous variant in NAGPA gene were also identified. ES in
additional members and further functional validation would ensure the
role of these genes in stuttering.