19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

ABSTRACT: Syndromes caused by copy number variations are described as reciprocal when they result from deletions or duplications of the same chromosomal region. When comparing the phenotypes of these syndromes, various clinical features could be described as reversed, probably due to the opposite effect of these imbalances on the expression of genes located at this locus. The NFIX gene codes for a transcription factor implicated in neurogenesis and chondrocyte differentiation. Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and macrocephaly. Here, we report a cohort of nine patients harboring microduplications encompassing NFIX. These patients exhibit v

SUBMITTER: Trimouille A 

PROVIDER: S-EPMC5838975 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature