Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature

M H de Ru, J J P Gille, A W M Nieuwint, J B Bijlsma, J F van der Blij, J M van Hagen

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.

Original languageEnglish
Pages (from-to)81-7
Number of pages7
JournalAmerican Journal of Medical Genetics Part A
Volume137
Issue number1
DOIs
Publication statusPublished - 15 Aug 2005

Cite this

@article{33e88c363f7d4dee83030b664565b4cd,
title = "Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature",
abstract = "We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.",
keywords = "Abnormalities, Multiple/genetics, Ataxia Telangiectasia Mutated Proteins, Blepharophimosis/pathology, Blepharoptosis/pathology, Cell Cycle Proteins/genetics, Child, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 3/genetics, DNA-Binding Proteins/genetics, Eyelids/abnormalities, Forkhead Box Protein L2, Forkhead Transcription Factors, Gene Deletion, Growth Disorders/pathology, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/pathology, Karyotyping, Microcephaly/pathology, Protein-Serine-Threonine Kinases/genetics, Syndrome, Transcription Factors/genetics",
author = "{de Ru}, {M H} and Gille, {J J P} and Nieuwint, {A W M} and Bijlsma, {J B} and {van der Blij}, {J F} and {van Hagen}, {J M}",
note = "Copyright 2005 Wiley-Liss, Inc.",
year = "2005",
month = "8",
day = "15",
doi = "10.1002/ajmg.a.30786",
language = "English",
volume = "137",
pages = "81--7",
journal = "American Journal of Medical Genetics Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay : clinical report and review of the literature. / de Ru, M H; Gille, J J P; Nieuwint, A W M; Bijlsma, J B; van der Blij, J F; van Hagen, J M.

In: American Journal of Medical Genetics Part A, Vol. 137, No. 1, 15.08.2005, p. 81-7.

Research output: Contribution to journalReview articleAcademicpeer-review

TY - JOUR

T1 - Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay

T2 - clinical report and review of the literature

AU - de Ru, M H

AU - Gille, J J P

AU - Nieuwint, A W M

AU - Bijlsma, J B

AU - van der Blij, J F

AU - van Hagen, J M

N1 - Copyright 2005 Wiley-Liss, Inc.

PY - 2005/8/15

Y1 - 2005/8/15

N2 - We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.

AB - We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.

KW - Abnormalities, Multiple/genetics

KW - Ataxia Telangiectasia Mutated Proteins

KW - Blepharophimosis/pathology

KW - Blepharoptosis/pathology

KW - Cell Cycle Proteins/genetics

KW - Child

KW - Chromosome Banding

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 3/genetics

KW - DNA-Binding Proteins/genetics

KW - Eyelids/abnormalities

KW - Forkhead Box Protein L2

KW - Forkhead Transcription Factors

KW - Gene Deletion

KW - Growth Disorders/pathology

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability/pathology

KW - Karyotyping

KW - Microcephaly/pathology

KW - Protein-Serine-Threonine Kinases/genetics

KW - Syndrome

KW - Transcription Factors/genetics

U2 - 10.1002/ajmg.a.30786

DO - 10.1002/ajmg.a.30786

M3 - Review article

VL - 137

SP - 81

EP - 87

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

SN - 1552-4825

IS - 1

ER -