Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.
We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband.
Menten
Björn
B
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bjorn.menten@ugent.be
Buysse
Karen
K
Vermeulen
Stefan
S
Meersschaut
Valerie
V
Vandesompele
Jo
J
Ng
Bee L
BL
Carter
Nigel P
NP
Mortier
Geert R
GR
Speleman
Frank
F
D001483:Base Sequence; D001827:Body Height / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D020223:Chromosome Painting; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D012640:Seizures / Q000235:genetics; D014178:Translocation, Genetic
D003598:Cytoskeletal Proteins; D020690:GTPase-Activating Proteins; D009687:Nuclear Proteins; C111952:OPHN1 protein, human