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Title: Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

Abstract

Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome 17. Toward the molecular definition of the interval defining this microdeletion syndrome, 62 unrelated SMS patients in conjunction with 70 available unaffected parents were molecularly analyzed with respect to the presence or absence of 14 loci in the proximal region of the short arm of chromosome 17. A multifaceted approach was used to determine deletion status at the various loci that combined (1) FISH analysis, (2) PCR and Southern analysis of somatic cell hybrids retaining the deleted chromosome 17 from selected patients, and (3) genotype determination of patients for whom a parent(s) was available at four microsatellite marker loci and at four loci with associated RFLPs. The relative order of two novel anonymous markers and a new microsatellite marker was determined in 17p11.2. The results confirmed that the proximal deletion breakpoint in the majority of SMS patients is located between markers D17S58 (EW301) and D17S446 (FG1) within the 17p11.1-17p11.2 region. The common distal breakpoint was mapped between markers cCI17-638, which lies distal to D17S71, and cCI17-498, which lies proximal to the Charcot Marie-Tooth disease type 1A locus. Themore » locus D17S258 was found to be deleted in all 62 patients, and probes from this region can be used for diagnosis of the SMS deletion by FISH. Ten patients demonstrated molecularly distinct deletions; of these, two patients had smaller deletions and will enable the definition of the critical interval for SMS. 49 refs.« less

Authors:
; ;  [1]
  1. Baylor College of Medicine, Houston, TX (United States); and others
Publication Date:
OSTI Identifier:
273499
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 58; Journal Issue: 5; Other Information: PBD: May 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENETIC MAPPING; HEREDITARY DISEASES; DIAGNOSIS; PATIENTS; CONGENITAL MALFORMATIONS; MENTAL DISORDERS; GENOTYPE; HUMAN CHROMOSOME 17; CHROMOSOMAL ABERRATIONS; SOMATIC CELLS; HYBRIDIZATION; BIOLOGICAL MARKERS; RFLPS; DNA HYBRIDIZATION; FLUORESCENCE; POLYMERASE CHAIN REACTION; PROBES

Citation Formats

Juyal, R C, Figuera, L E, and Hauge, X. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. United States: N. p., 1996. Web.
Juyal, R C, Figuera, L E, & Hauge, X. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. United States.
Juyal, R C, Figuera, L E, and Hauge, X. 1996. "Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients". United States.
@article{osti_273499,
title = {Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients},
author = {Juyal, R C and Figuera, L E and Hauge, X},
abstractNote = {Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome 17. Toward the molecular definition of the interval defining this microdeletion syndrome, 62 unrelated SMS patients in conjunction with 70 available unaffected parents were molecularly analyzed with respect to the presence or absence of 14 loci in the proximal region of the short arm of chromosome 17. A multifaceted approach was used to determine deletion status at the various loci that combined (1) FISH analysis, (2) PCR and Southern analysis of somatic cell hybrids retaining the deleted chromosome 17 from selected patients, and (3) genotype determination of patients for whom a parent(s) was available at four microsatellite marker loci and at four loci with associated RFLPs. The relative order of two novel anonymous markers and a new microsatellite marker was determined in 17p11.2. The results confirmed that the proximal deletion breakpoint in the majority of SMS patients is located between markers D17S58 (EW301) and D17S446 (FG1) within the 17p11.1-17p11.2 region. The common distal breakpoint was mapped between markers cCI17-638, which lies distal to D17S71, and cCI17-498, which lies proximal to the Charcot Marie-Tooth disease type 1A locus. The locus D17S258 was found to be deleted in all 62 patients, and probes from this region can be used for diagnosis of the SMS deletion by FISH. Ten patients demonstrated molecularly distinct deletions; of these, two patients had smaller deletions and will enable the definition of the critical interval for SMS. 49 refs.},
doi = {},
url = {https://www.osti.gov/biblio/273499}, journal = {American Journal of Human Genetics},
number = 5,
volume = 58,
place = {United States},
year = {Wed May 01 00:00:00 EDT 1996},
month = {Wed May 01 00:00:00 EDT 1996}
}