Document Detail

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
MedLine Citation:
PMID:  19844256     Owner:  NLM     Status:  MEDLINE    
Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.
Sandesh Chakravarthy Sreenath Nagamani; Ayelet Erez; Joseph Shen; Chumei Li; Elizabeth Roeder; Sarah Cox; Lefkothea Karaviti; Margret Pearson; Sung-Hae L Kang; Trilochan Sahoo; Seema R Lalani; Pawel Stankiewicz; V Reid Sutton; Sau Wai Cheung
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2009-10-21
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  18     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-02-18     Completed Date:  2010-05-18     Revised Date:  2013-05-31    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  278-84     Citation Subset:  IM    
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
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MeSH Terms
Child, Preschool
Chromosome Aberrations*
Chromosome Deletion
Chromosomes, Human, Pair 17 / genetics*
Cohort Studies
Comparative Genomic Hybridization
Gene Duplication
Gene Rearrangement / genetics*
Genome, Human / genetics*
Hepatocyte Nuclear Factor 1-beta / genetics
Infant, Newborn
Magnetic Resonance Imaging
Young Adult
Grant Support
Reg. No./Substance:
0/HNF1B protein, human; 138674-15-4/Hepatocyte Nuclear Factor 1-beta

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