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

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Hanemaaijer N,Dijkhuizen T,Haadsma M,Boeve M,Boon M,Hordijk R,Kok K,Sikkema-Raddatz B,van Ravenswaaij-Arts CM

doi

10.1016/j.ejmg.2009.01.005

subject

Has Abstract

pub_date

2009-03-01 00:00:00

pages

116-9

issue

2-3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(09)00007-X

journal_volume

52

pub_type

杂志文章,评审

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