TY - JOUR
T1 - Rubinstein-Taybi syndrome associated with chiari type I malformation caused by a large 16p13.3 microdeletion
T2 - A contiguous gene syndrome?
AU - Wójcik, Cezary
AU - Volz, Kim
AU - Ranola, Maria
AU - Kitch, Karla
AU - Karim, Tariza
AU - O'Neil, Joseph
AU - Smith, Jodi
AU - Torres-Martinez, Wilfredo
PY - 2010/2
Y1 - 2010/2
N2 - Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a ∼520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL.
AB - Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a ∼520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL.
KW - 16p13.3 microdeletion
KW - Chiari type 1 malformation
KW - Contiguous gene syndrome
KW - Corpus callosum
KW - Rubinstein-Taybi syndrome
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U2 - 10.1002/ajmg.a.33303
DO - 10.1002/ajmg.a.33303
M3 - Article
C2 - 20101707
AN - SCOPUS:75449114422
SN - 1552-4825
VL - 152
SP - 479
EP - 483
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -