Handbook of Abiogenetic Counseling Coffin-Lowry Affection

 18 June 03:33   Coffin-Lowry Syndrome

    ****Cardiac anomalies

    ****Panacinar emphysema

    ****Respiratory complications

    ****Progressive Kyphoscoliosis

    ****Seizure-associated aspiration

    *Ribosomal S6 kinase agitator assay

    **Performed on able fibroblasts or adapted lymphoblasts

    **Available on a analytic base in males

    **Not as advantageous in females due to ample ambit of agitator action consistent from X-chromosome inactivation

    *Molecular Abiogenetic Testing

    **Uses of testing

    ***Confirmatory analytic testing

    ***Carrier testing

    ***Prenatal diagnosis

    **Test Methods

    ***Mutation Scanning

    ****SSCP assay (followed by squencing of aberrant exons)

    *Available on a analytic basis

    *In CLS patients, mutations were articular in 34% who had a analytic diagnosis

    *A abrogating abstr action does not aphorism out the analysis of CLS

    ***Protein Truncation testing

    ****~60% of 71 mutations idenitifed acquired protein truncation

    ****Western blemish then sequencing of variants

    ****Performed on able lymphoblasts

    ****Is accessible clinically for afflicted males

    ***Linkage Analysis

    ****For families in which absolute testing has not articular a mutation

    *Assesses anticipation that at-risk individuals accept affiliated a familial mutation

    ****Acurracy abased on:

    *Accurracy of analytic analysis of CLS

    *Informativeness of abiogenetic markers in the family

    ****Samples are appropriate from assorted ancestors associates to accomplish analysis

    **Laboratories alms analytic testing

    ***Universite Louis Pasteur

    :Institut Genet Biologie Molec/Cellulaire Illkirch , France

    :Director: Pierre Chambon

    :Contact: Andre Hanauer, PhD

    :email: Email: andre@titus.u-strasbg.fr

    :phone: (+33) 3-88-65-34-00 fax: (+33) 3-88-65-32-46

    :Methodology: Absolute DNA analysis, Linkage, Agitator Assay, Protein Analysis

    :Additional testing Provided: Prenatal diagnosis

    **Laboratories alms analysis testing

    ***JC Cocky Analysis Institute

    :Center for Atomic Studies Greenwood, SC

    :Director: Charles Schwartz, MS, PhD

    :Contact: Cindy Skinner, RN

    :email: cindy@ggc.org

    :phone: (800) 939-1920 phone2: (864) 941-8115 fax: (864) 388-1707

    :Description of Research: Mutational assay using SSCP or DHPLC, is done on all exons of RSK2 in males doubtable to accept CLS. Acquaintance above-mentioned to sending samples.

    *No specific analysis for CLS

    *Need for development of advice abilities and self-care

    *Vision and audition testing is appropriate

    *Cardiac studies should be done in childhood

    **Repeated every 5-10 years

    *Monitor for the development of accelerating kyphoscoliosis

    **Intervention to anticipate progression is appropriate

    *Should be suspicion for absorption of analgesic canal

    **Attention to gait

    **Bowel/bladder habits

    **Expression of pain

    **Focal acoustic changes

    **Clonus

    **Abnormal bond reflexes

    **Awareness of bead attacks

    ***Allows aboriginal action to abbreviate accident of triggering stimuli

    **Trial of antiepileptic medication may be indicated

    *Significant amusing assets may be appropriate to abutment women with CLSpeepoo

    ***Borjeson-Fossman-Lehmann Affection (BFLS)

    ****X-linked backward disorder

    ****Severe MR

    ****Hand findings

    ****Short anteverted adenoids with blubbery septum

    ****Small nares

    ****Kyphoscoliosis

    ***Facial appearances agnate to CLS:

    ****Williams Syndrome

    ****FG syndrome

    ****X-linked alpha-thalassemia MR

    **NINDH Coffin-Lowry Advice Page

    ***www.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm

    ***Coffin-Lowry Affection Foundation

    :3045 255th Access SE

    :Sammamish, WA 98075

    :CLSFoundation@yahoo.com

    :http://clsf.info

    :Tel: 425-427-0939 (M-F afterwards 6pm PST

    ***National Alignment for Attenuate Disorders (NORD)

    :P.O. Box 1968

    :(55 Kenosia Avenue)

    :Danbury, CT 06813-1968

    :orphan@rarediseases.org

    :http://www.rarediseases.org

    :Tel: 203-744-0100 Articulation Mail 800-999-NORD (6673)

    :Fax: 203-798-2291

    ***National Convention of Adolescent Bloom and Animal Development (NICHD)

    :National Institutes of Health

    :Bldg. 31, Rm. 2A32

    :Bethesda, MD 20892-2425

    :NICHDClearinghouse@mail.nih.gov

    :http://www.nichd.nih.gov

    :Tel: 301-496-5133 800-370-2943

    ***National Convention of Brainy Bloom (NIMH)

    :6001 Controlling Blvd.

    :Rm. 8184, MSC 9663

    :Bethesda, MD 20892-9663

    :nimhinfo@nih.gov

    :http://www.nimh.nih.gov

    :Tel: 301-443-4513 TTY: 301-443-8431 Abasement Info: 800-421-4211 All-overs Info: 88-88-ANXIETY (269-4389) Agitation Info: 888-64-PANIC (64-72642)

    :Fax: 301-443-4279

    ***The Arc of the Affiliated States

    :1010 Wayne Avenue

    :Suite 650

    :Silver Spring, MD 20910

    :Info@thearc.org

    :http://www.thearc.org

    :Tel: 301-565-3842

    :Fax: 301-565-3843 or -5342

    ***March of Dimes Bearing Defects Foundation

    :1275 Mamaroneck Avenue

    :White Plains, NY 10605

    :askus@marchofdimes.org

    :http://www.marchofdimes.org

    :Tel: 914-428-7100 888-MODIMES (663-4637)

    :Fax: 914-428-8203

    *Review session

    *Answer final questions

    *Give agenda

    The advice in this outline was endure adapted in April 2003.