Phenotypic expansion in - a common cause of intellectual disability in females.

TitlePhenotypic expansion in - a common cause of intellectual disability in females.
Publication TypeJournal Article
Year of Publication2018
AuthorsWang, X, Posey, JE, Rosenfeld, JA, Bacino, CA, Scaglia, F, Immken, L, Harris, JM, Hickey, SE, Mosher, TM, Slavotinek, A, Zhang, J, Beuten, J, Leduc, MS, He, W, Vetrini, F, Walkiewicz, MA, Bi, W, Xiao, R, Liu, P, Shao, Y, Gezdirici, A, Gulec, EY, Jiang, Y, Darilek, SA, Hansen, AW, Khayat, MM, Pehlivan, D, Piard, J, Muzny, DM, Hanchard, N, Belmont, JW, Van Maldergem, L, Gibbs, RA, Eldomery, MK, Akdemir, ZC, Adesina, AM, Chen, S, Lee, Y-C, Lee, B, Lupski, JR, Eng, CM, Xia, F, Yang, Y, Graham, BH, Moretti, P
Corporate AuthorsUndiagnosed Diseases Network
JournalAnn Clin Transl Neurol
Date Published2018 Oct

De variants in account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or ID, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes observed include respiratory problems, congenital heart disease, skeletal muscle mitochondrial DNA depletion, and late-onset neurologic decline. Our findings expand the spectrum of DNA variants and phenotypes associated with disorders.

Alternate JournalAnn Clin Transl Neurol
PubMed ID30349862
PubMed Central IDPMC6186933
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
T32 GM008307 / GM / NIGMS NIH HHS / United States
U01 HG007709 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States