Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism

Gulhan Ercan-Sencicek, A.; Davis Wright, Nicole R.; Frost, Stephen J.; Fulbright, Robert K.; Felsenfeld, Susan; Hart, Lesley; Landi, Nicole; Einar Mencl, W.; Sanders, Stephan J.; Pugh, Kenneth R.; State, Matthew W.; Grigorenko, Elena L.

doi:10.1016/j.braindev.2011.11.003

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Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism

A. Gulhan Ercan-Sencicek
- Program on Neurogenetics, Yale University School of Medicine, USA
- Child Study Center, Yale University School of Medicine, USA
- Department of Genetics, Yale University School of Medicine, USA
Nicole R. Davis Wright
- Program on Neurogenetics, Yale University School of Medicine, USA
- Child Study Center, Yale University School of Medicine, USA
- Department of Genetics, Yale University School of Medicine, USA
Stephen J. Frost
- Haskins Laboratories, Yale University School of Medicine, USA
Robert K. Fulbright
- Haskins Laboratories, Yale University School of Medicine, USA
- Diagnostic Radiology, Yale University School of Medicine, USA
- Magnetic Resonance Research Center, Yale University School of Medicine, USA
Susan Felsenfeld
- Haskins Laboratories, Yale University School of Medicine, USA
- Southern Connecticut State University, USA
Lesley Hart
- Child Study Center, Yale University School of Medicine, USA
Nicole Landi
- Child Study Center, Yale University School of Medicine, USA
- Haskins Laboratories, Yale University School of Medicine, USA
W. Einar Mencl
- Haskins Laboratories, Yale University School of Medicine, USA
Stephan J. Sanders
- Program on Neurogenetics, Yale University School of Medicine, USA
- Child Study Center, Yale University School of Medicine, USA
- Department of Genetics, Yale University School of Medicine, USA
- Department of Psychiatry, Yale University School of Medicine, USA
Kenneth R. Pugh
- Haskins Laboratories, Yale University School of Medicine, USA
- Department of Psychology, University of Connecticut, USA
- Department of Linguistics, Yale University, USA
- Department of Diagnostic Radiology, Yale University School of Medicine, USA
- Yale Reading Center, USA
Matthew W. State
- Program on Neurogenetics, Yale University School of Medicine, USA
- Child Study Center, Yale University School of Medicine, USA
- Department of Genetics, Yale University School of Medicine, USA
- Department of Psychiatry, Yale University School of Medicine, USA
- Corresponding authors. Addresses: Yale Child Study Center PO Box 207900 230 South Frontage Road New Haven, CT 06520-7900, USA (M.W. State), Child Study Center, Yale University Medical School, 230 South Frontage Road, New Haven, CT 06519, USA. (E.L. Grigorenko). Tel.: +1 203 737 2316; fax: +1 203 785 3002.
Elena L. Grigorenko
- Child Study Center, Yale University School of Medicine, USA
- Haskins Laboratories, Yale University School of Medicine, USA
- Department of Psychology, Yale University School of Medicine, USA
- Department of Epidemiology & Public Health, Yale University School of Medicine, USA
- Teachers College, Columbia University, USA
- Department of Psychology, Moscow State University, Russia
- Corresponding authors. Addresses: Yale Child Study Center PO Box 207900 230 South Frontage Road New Haven, CT 06520-7900, USA (M.W. State), Child Study Center, Yale University Medical School, 230 South Frontage Road, New Haven, CT 06519, USA. (E.L. Grigorenko). Tel.: +1 203 737 2316; fax: +1 203 785 3002.

Received 19 July 2011; received in revised form 7 November 2011; accepted 13 November 2011. published online 19 December 2011.
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Abstract

Potocki–Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism.

Keywords: Language and speech impairment, Potocki–Lupski syndrome, 17p11.2, EFCBP1, inv(8)(q21.3-q24.1)