Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations
This study will collect blood, urine, and other tissue samples from patients with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle myosin genes. Pentalogy of Cantrell is a very rare disorder in which patients have a combination of severe defects of the middle of the chest including the sternum (breastbone), diaphragm, heart, and abdominal wall. The defect is apparent before birth or at birth. If the mutant gene is identified in the patient tissue samples will also be collected from relatives of the patients.
Participants undergo a medical evaluation that may include a medical history routine blood tests, urine collection, chest x-ray, and electrocardiogram. In addition, blood and urine samples are collected for protein and gene studies. The blood is drawn through a very small needle placed in an arm vein. Children may choose to have a buccal (cheek) sample taken instead of blood draw. Buccal samples can be collected by a cheek swab, in which a soft brush is rubbed on the inside lining of the mouth, or by having the child hold a tablespoon of mouthwash in his or her mouth for a full minute and then spit the mouthwash into a container.
Other tissue samples may be collected from patients at the time of any surgical procedure that may be required as part of their general medical care.
Some of the cells obtained from patients or their relatives may be used to establish cell lines (a living tissue sample) that can be grown in the laboratory and used for experiments.
Inborn Genetic Diseases
Pentalogy of Cantrell
|Official Title:||Human Diseases With Mutation of Non-Muscle Myosin Heavy and Light Chain Genes|
|Study Start Date:||May 2004|
The purpose of this protocol is to collect protein, DNA, and RNA from blood and/or tissue samples as well as urine samples of patients with Pentalogy of Cantrell or other diseases that could involve mutation of any of the genes encoding nonmuscle myosin heavy chains (NMHC IIA on chromosome 22, IIB on chromosome 17 or IIC on chromosome 19). Mutations of nonmuscle myosin IIA have been shown to result in human defects involving blood platelets, kidney, hearing and sight (Epstein's Syndrome, May-Hegglin/Fechtner Syndrome). We have recently generated a mouse model of the mutations found in humans in NMHC IIA which duplicates many of the abnormalities that are present in humans. Defects in patients with mutations in nonmuscle myosin IIB are not known yet. However, we have produced a mouse model with the mutant mice exhibiting problems with ventral wall closure, and extrathoracic location of the heart (ectopia cordis), guts and liver. The mice had severe defects in both the heart and brain, and resemble humans born with the rare syndrome Pentalogy of Cantrell, who manifest these same abnormalities. Humans with a point mutation in nonmuscle myosin IIC have been reported and suffer from loss of hearing.
|Contact: Robert S Adelstein, M.D.||(301) firstname.lastname@example.org|
|United States, California|
|University of California, San Francisco||Recruiting|
|San Francisco, California, United States, 94143-0720|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 email@example.com|
|United States, Massachusetts|
|Brigham and Women's Hospital||Recruiting|
|Boston, Massachusetts, United States, 02115|
|United States, Ohio|
|Cincinnati Children's Hospital Medical Center||Recruiting|
|Cincinnati, Ohio, United States, 45229-3039|
|United States, Texas|
|University of Texas Southwestern Medical Center||Recruiting|
|Dallas, Texas, United States, 75390|
|Ben Gurion University||Recruiting|
|Beersheva, Israel, 84105|
|Principal Investigator:||Robert S Adelstein, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|