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Eur J Med Genet. 2009 Mar-Jun;52(2-3):116-9.

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

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  • 1Department of Genetics, CB50, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

Abstract

We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the duplicated region, including the POMGNT1 gene encoding for O-mannose beta-1,2-N-acetylglucosaminyltransferase. This gene, mutated in muscle-eye-brain disease, might be causative for the observed phenotype in our patient.

PMID:
19452620
[PubMed - indexed for MEDLINE]
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