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

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

^*Corresponding author voor dit werk

Reproductive Origins of Adult Health and Disease (ROAHD)

Onderzoeksoutput › peer review

7 Citaten (Scopus)

Samenvatting

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. (C) 2009 Elsevier Masson SAS. All rights reserved.

Originele taal-2	English
Pagina's (van-tot)	116-119
Aantal pagina's	4
Tijdschrift	European journal of medical genetics
Volume	52
Nummer van het tijdschrift	2-3
DOI's	https://doi.org/10.1016/j.ejmg.2009.01.005
Status	Published - 2009

Toegang tot document

10.1016/j.ejmg.2009.01.005

Handle.net

Permanente koppeling

Citeer dit

Hanemaaijer, N., Dijkhuizen, T., Haadsma, M., Boeve, M., Boon, M., Hordijk, R., Kok, K., Sikkema-Raddatz, B., & van Ravenswaaij-Arts, C. M. A. (2009). A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. European journal of medical genetics, 52(2-3), 116-119. https://doi.org/10.1016/j.ejmg.2009.01.005

@article{7813690ea3204821a00a66bc5a2f1ba1,

title = "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. (C) 2009 Elsevier Masson SAS. All rights reserved.",

keywords = "Duplication 1p34.1, Array CGH, Developmental delay, Microcephaly, Coloboma, Laryngomalacia, POMGNT1, SHORT ARM, CHROMOSOME-1, DISEASE, 1P",

author = "Nicolien Hanemaaijer and Trijnie Dijkhuizen and Maaike Haadsma and Margot Boeve and Maartje Boon and Roel Hordijk and Klaas Kok and Birgit Sikkema-Raddatz and {van Ravenswaaij-Arts}, {Conny M. A.}",

year = "2009",

doi = "10.1016/j.ejmg.2009.01.005",

language = "English",

volume = "52",

pages = "116--119",

journal = "European journal of medical genetics",

issn = "1769-7212",

publisher = "ELSEVIER SCIENCE BV",

number = "2-3",

}

Hanemaaijer, N, Dijkhuizen, T, Haadsma, M, Boeve, M, Boon, M, Hordijk, R, Kok, K , Sikkema-Raddatz, B & van Ravenswaaij-Arts, CMA 2009, 'A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature', European journal of medical genetics, vol. 52, nr. 2-3, blz. 116-119. https://doi.org/10.1016/j.ejmg.2009.01.005

TY - JOUR

T1 - A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

AU - Hanemaaijer, Nicolien

AU - Dijkhuizen, Trijnie

AU - Haadsma, Maaike

AU - Boeve, Margot

AU - Boon, Maartje

AU - Hordijk, Roel

AU - Kok, Klaas

AU - Sikkema-Raddatz, Birgit

AU - van Ravenswaaij-Arts, Conny M. A.

PY - 2009

Y1 - 2009

N2 - 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. (C) 2009 Elsevier Masson SAS. All rights reserved.

AB - 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. (C) 2009 Elsevier Masson SAS. All rights reserved.

KW - Duplication 1p34.1

KW - Array CGH

KW - Developmental delay

KW - Microcephaly

KW - Coloboma

KW - Laryngomalacia

KW - POMGNT1

KW - SHORT ARM

KW - CHROMOSOME-1

KW - DISEASE

KW - 1P

U2 - 10.1016/j.ejmg.2009.01.005

DO - 10.1016/j.ejmg.2009.01.005

M3 - Review article

SN - 1769-7212

VL - 52

SP - 116

EP - 119

JO - European journal of medical genetics

JF - European journal of medical genetics

IS - 2-3

ER -

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

Samenvatting

Toegang tot document

Handle.net

Vingerafdruk

Citeer dit