Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2

E. F. Sanford; K. Bermudez-Wagner; L. J B Jeng; Katherine A Rauen; Anne M. Slavotinek

doi:10.1002/ajmg.a.34247

Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2

E. F. Sanford, K. Bermudez-Wagner, L. J B Jeng, Katherine A Rauen, Anne M. Slavotinek

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

7 Scopus citations

Abstract

We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia.

Original language	English (US)
Pages (from-to)	2816-2820
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	155
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.34247
State	Published - Nov 2011
Externally published	Yes

Keywords

17p11.2
Congenital diaphragmatic hernia
Contiguous gene deletion
RAI1 gene
Smith-magenis

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2",

abstract = "We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia.",

keywords = "17p11.2, Congenital diaphragmatic hernia, Contiguous gene deletion, RAI1 gene, Smith-magenis",

author = "Sanford, {E. F.} and K. Bermudez-Wagner and Jeng, {L. J B} and Rauen, {Katherine A} and Slavotinek, {Anne M.}",

year = "2011",

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T2 - A possible locus at chromosome 17p11.2

AU - Sanford, E. F.

AU - Bermudez-Wagner, K.

AU - Jeng, L. J B

AU - Rauen, Katherine A

AU - Slavotinek, Anne M.

PY - 2011/11

Y1 - 2011/11

N2 - We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia.

AB - We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia.

KW - 17p11.2

KW - Congenital diaphragmatic hernia

KW - Contiguous gene deletion

KW - RAI1 gene

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Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2

Abstract

Keywords

ASJC Scopus subject areas

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