Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

T Y Tan; S Aftimos; L Worgan; R Susman; M Wilson; S Ghedia; E P Kirk; D Love; A Ronan; A Darmanian; A Slavotinek; J Hogue; J B Moeschler; J Ozmore; R Widmer; Damien Bruno; R Savarirayan; G Peters

doi:10.1136/jmg.2008.065391

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

T Y Tan, S Aftimos, L Worgan, R Susman, M Wilson, S Ghedia, E P Kirk, D Love, A Ronan, A Darmanian, A Slavotinek, J Hogue, J B Moeschler, J Ozmore, R Widmer, Damien Bruno, R Savarirayan, G Peters

Pediatrics

Research output: Contribution to journal › Article › peer-review

61 Scopus citations

Abstract

BACKGROUND: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures.

METHODS AND RESULTS: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267.

CONCLUSION: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.

Original language	English
Pages (from-to)	480-9
Number of pages	10
Journal	Journal of Medical Genetics
Volume	46
Issue number	7
DOIs	https://doi.org/10.1136/jmg.2008.065391
State	Published - Jul 2009

Keywords

Abnormalities, Multiple/diagnosis
Child
Child, Preschool
Chromosomes, Human, Pair 17
Comparative Genomic Hybridization
Female
Gene Deletion
Humans
Infant
Male
Oligonucleotide Array Sequence Analysis
Phenotype
Syndrome

Access to Document

10.1136/jmg.2008.065391

Cite this

Tan, T. Y., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Bruno, D., Savarirayan, R., & Peters, G. (2009). Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 46(7), 480-9. https://doi.org/10.1136/jmg.2008.065391

@article{f4c540bd3771443a93ecff824d03733a,

title = "Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome",

abstract = "BACKGROUND: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures.METHODS AND RESULTS: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267.CONCLUSION: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.",

keywords = "Abnormalities, Multiple/diagnosis, Child, Child, Preschool, Chromosomes, Human, Pair 17, Comparative Genomic Hybridization, Female, Gene Deletion, Humans, Infant, Male, Oligonucleotide Array Sequence Analysis, Phenotype, Syndrome",

author = "Tan, {T Y} and S Aftimos and L Worgan and R Susman and M Wilson and S Ghedia and Kirk, {E P} and D Love and A Ronan and A Darmanian and A Slavotinek and J Hogue and Moeschler, {J B} and J Ozmore and R Widmer and Damien Bruno and R Savarirayan and G Peters",

year = "2009",

month = jul,

doi = "10.1136/jmg.2008.065391",

language = "English",

volume = "46",

pages = "480--9",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "7",

}

Tan, TY, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, EP, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, JB, Ozmore, J, Widmer, R, Bruno, D, Savarirayan, R & Peters, G 2009, 'Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome', Journal of Medical Genetics, vol. 46, no. 7, pp. 480-9. https://doi.org/10.1136/jmg.2008.065391

TY - JOUR

T1 - Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

AU - Tan, T Y

AU - Aftimos, S

AU - Worgan, L

AU - Susman, R

AU - Wilson, M

AU - Ghedia, S

AU - Kirk, E P

AU - Love, D

AU - Ronan, A

AU - Darmanian, A

AU - Slavotinek, A

AU - Hogue, J

AU - Moeschler, J B

AU - Ozmore, J

AU - Widmer, R

AU - Bruno, Damien

AU - Savarirayan, R

AU - Peters, G

PY - 2009/7

Y1 - 2009/7

N2 - BACKGROUND: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures.METHODS AND RESULTS: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267.CONCLUSION: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.

AB - BACKGROUND: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures.METHODS AND RESULTS: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267.CONCLUSION: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.

KW - Abnormalities, Multiple/diagnosis

KW - Child

KW - Child, Preschool

KW - Chromosomes, Human, Pair 17

KW - Comparative Genomic Hybridization

KW - Female

KW - Gene Deletion

KW - Humans

KW - Infant

KW - Male

KW - Oligonucleotide Array Sequence Analysis

KW - Phenotype

KW - Syndrome

U2 - 10.1136/jmg.2008.065391

DO - 10.1136/jmg.2008.065391

M3 - Article

C2 - 19447831

SN - 0022-2593

VL - 46

SP - 480

EP - 489

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 7

ER -