Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Fragile X syndrome, the most common form of X-linked intellectual disability, results from transcriptional silencing of the FMR1 gene. As of yet, the phenotypic consequences of the duplication of FMR1 have not been well characterized. In this report, we characterize the clinical features in two females with duplications involving only the FMR1 gene. In addition, we describe the phenotypes of two subjects with deletion of FMR1 and show that both loss and gain of FMR1 copy number can lead to overlapping neurodevelopmental phenotypes. Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. nagamani@bcm.edu
Sandesh C S
SC
Nagamani
Ayelet
A
Erez
Frank J
FJ
Probst
Patricia
P
Bader
Patricia
P
Evans
Linda A
LA
Baker
Ping
P
Fang
Terry
T
Bertin
Patricia
P
Hixson
Pawel
P
Stankiewicz
David
D
Nelson
Ankita
A
Patel
Sau Wai
SW
Cheung
D001483:Base Sequence; D002648:Child; D002653:Child Behavior Disorders / Q000235:genetics; D002675:Child, Preschool; D003072:Cognition Disorders / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D017353:Gene Deletion; D018628:Gene Dosage; D015321:Gene Rearrangement; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human