Advertisement

Topics

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

2014-08-27 03:58:18 | BioPortfolio

Summary

OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2).

II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p.

III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23.

IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2.

V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13.

VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene.

VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.

Description

PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal ultrasound.

Smith-Magenis patients are also evaluated with the following: urine melatonin levels during day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic, and cholesterol studies. A clinical and phenotypic map is constructed.

When appropriate, parental chromosome analysis is performed.

Study Design

Primary Purpose: Screening

Conditions

Williams Syndrome

Location

Baylor College of Medicine
Houston
Texas
United States
77030

Status

Completed

Source

Office of Rare Diseases (ORD)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:58:18-0400

Clinical Trials [776 Associated Clinical Trials listed on BioPortfolio]

Vitamin D Metabolism and the Williams Syndrome

The Williams syndrome is a disease in which supravalvular aortic stenosis, an elfin facies, mental retardation and other congenital defects are sometimes associated with abnormal vitamin D...

WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)

Background: Williams Syndrome (WS) is a genetic disorder. People with WS have less of a protein that allows parts of the body to stretch than other individuals. Researchers are interested...

The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome

The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Tre...

Air-Q® SP Versus Williams Intubating Airway for Single-Operator FOI

The air-Q and air-Q SP are commercially-available supraglottic airways (SGAs) that can be used for primary airway maintenance or as a conduit for FOI, as can be the Williams, Ovassapian, a...

Efficacy of Minoxidil in Children With Williams-Beuren Syndrome

The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11....

PubMed Articles [4677 Associated PubMed Articles listed on BioPortfolio]

Cardiovascular disease in Williams syndrome.

Williams syndrome is a multisystem disorder seen with some regularity at most pediatric centers and usually fairly often at larger centers. Cardiovascular abnormalities, because of elastin deficiency,...

Oral prednisolone for management of persistent hypercalcemia afterhypercalcemic crisis in the Williams-Beuren syndrome.

Hypercalcemia may occur in approximately 15% of children with the Williams-Beuren syndrome. The episodes of hypercalcemic crisis usually respond well to initial hyperhydration, loop diuretics and calc...

Bone involvement and mineral metabolism in Williams' syndrome.

The previous studies suggested a possible increased risk of hypercalcaemia and reduced bone mineral density (BMD) in Williams' syndrome (WS). However, an extensive study regarding bone metabolism has ...

Characteristics of auditory evaluation in Williams syndrome: a systematic review.

Identify the characteristics of the clinical audiological evaluation of individuals with Williams syndrome by means of a systematic literature review.

A Novel Imaging Finding in Williams Syndrome: The Coral Sign.

A 16-year-old female, with a history of Williams syndrome, presented to our institution with a 2-week history of intermittent dizziness. Holter monitoring demonstrated occasional premature ventricular...

Medical and Biotech [MESH] Definitions

The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

More From BioPortfolio on "Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Sleep Disorders
Sleep disorders disrupt sleep during the night, or cause sleepiness during the day, caused by physiological or psychological factors. The common ones include snoring and sleep apnea, insomnia, parasomnias, sleep paralysis, restless legs syndrome, circa...


Searches Linking to this Trial