Document Detail

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
MedLine Citation:
PMID:  21505449     Owner:  NLM     Status:  MEDLINE    
Patients with an interstitial 13q deletion that contains the RB1 gene show retinoblastoma and variable clinical features. Relationship between phenotypic expression and loss of specific neighboring genes are unresolved, yet. We obtained clinical, cytogenetic and molecular data in 63 patients with an interstitial 13q deletion involving RB1. Whole-genome array analysis or customized high-resolution array analysis for 13q14.11q14.3 was performed in 38 patients, and cytogenetic analysis was performed in 54 patients. Deletion sizes ranged between 4.2 kb and more than 33.43 Mb; breakpoints were non-recurrent. Sequence analysis of deletion junctions in five patients revealed microhomology and insertion of 2-34 base pairs suggestive of non-homologous end joining. Milder phenotypic expression of retinoblastoma was observed in patients with deletions larger than 1 Mb, which contained the MED4 gene. Clinical features were compared between patients with small (within 13q14), medium (within 13q12.3q21.2) and large (within 13q12q31.2) deletions. Patients with a small deletion can show macrocephaly, tall stature, obesity, motor and/or speech delay. Patients with a medium deletion show characteristic facial features, mild to moderate psychomotor delay, short stature and microcephaly. Patients with a large deletion have characteristic craniofacial dysmorphism, short stature, microcephaly, mild to severe psychomotor delay, hypotonia, constipation and feeding problems. Additional features included deafness, seizures and brain and heart anomalies. We found no correlation between clinical features and parental origin of the deletion. Our data suggest that hemizygous loss of NUFIP1 and PCDH8 may contribute to psychomotor delay, deletion of MTLR1 to microcephaly and loss of EDNRB to feeding difficulties and deafness.
Diana Mitter; Reinhard Ullmann; Artur Muradyan; Ludger Klein-Hitpass; Deniz Kanber; Katrin Ounap; Marc Kaulisch; Dietmar Lohmann
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-04-20
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  19     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-08-18     Completed Date:  2012-01-03     Revised Date:  2013-06-30    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  947-58     Citation Subset:  IM    
Institut für Humangenetik, Universitätsklinikum Essen, Philipp-Rosenthal-Straße 55, Leipzig, Germany.
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MeSH Terms
Abnormalities, Multiple / genetics
Child, Preschool
Chromosome Deletion
Chromosome Disorders / genetics*
Chromosomes, Human, Pair 13 / genetics
Genes, Retinoblastoma / genetics*
Genetic Association Studies*
Infant, Newborn
Microcephaly / genetics
Retinoblastoma / genetics*

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