A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.
Shinawi
Marwan
M
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Schaaf
Christian P
CP
Bhatt
Samarth S
SS
Xia
Zhilian
Z
Patel
Ankita
A
Cheung
Sau Wai
SW
Lanpher
Brendan
B
Nagl
Sandra
S
Herding
Heinrich Stephan
HS
Nevinny-Stickel
Claudia
C
Immken
LaDonna L
LL
Patel
Gayle Simpson
GS
German
Jennifer Ruth
JR
Beaudet
Arthur L
AL
Stankiewicz
Pawel
P
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009421:Nervous System Malformations / Q000235:genetics*; D010641:Phenotype; D011978:Receptors, Nicotinic / Q000235:genetics; D011995:Recombination, Genetic; D012640:Seizures / Q000235:genetics; D064569:alpha7 Nicotinic Acetylcholine Receptor
C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor