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

Nicolien Hanemaaijer; Trijnie Dijkhuizen; Maaike Haadsma; Margot Boeve; Maartje Boon; Roel Hordijk; Klaas Kok; Birgit Sikkema-Raddatz; Conny M A van Ravenswaaij-Arts

doi:10.1016/j.ejmg.2009.01.005

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

Eur J Med Genet. 2009 Mar-Jun;52(2-3):116-9. doi: 10.1016/j.ejmg.2009.01.005.

Authors

Nicolien Hanemaaijer¹, Trijnie Dijkhuizen, Maaike Haadsma, Margot Boeve, Maartje Boon, Roel Hordijk, Klaas Kok, Birgit Sikkema-Raddatz, Conny M A van Ravenswaaij-Arts

Affiliation

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

PMID: 19452620
DOI: 10.1016/j.ejmg.2009.01.005

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.

Publication types

Case Reports
Review

MeSH terms

Chromosome Disorders / genetics*
Chromosomes, Human, Pair 1*
Coloboma / genetics
Humans
Infant
Laryngomalacia / genetics
Microcephaly / genetics
N-Acetylglucosaminyltransferases / genetics*
Phenotype

Substances

N-Acetylglucosaminyltransferases
protein O-mannose beta-1,2-N-acetylglucosaminyltransferase