Coffin-Lowry Syndrome

Andres Schmidt
Biology
Period- I
05/21/13

Coffin-Lowry Syndrome (CLS)

Coffin-Lowy Syndrome
 Definition: Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and

which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
 Grange S. Coffin in 1966 discovered this syndrome, in the University of Columbia New York
United States of America.

 Grange S. Coffin

Grange S. Coffin
 Born January 18, 1923, Kinston, North Carolina. Grange S.

Coffin qualified in medicine at Columbia University, New
York, in 1947, where he specialized as a pediatrician.
 He was married with two children, he lived in north Carolina, and
in
Berkeley, California.

Who is Threatened??
 Males are more threatened than females since is a X dominant disease but

female carriers also have characteristics of the disease. Is estimated that 1 in
40,000 to 50,000 people get Coffin-Lowry Syndrome.
 The disease is found in the pair chromosomes 7 and then showed again I chromosomes10. Why??
 This condition is inherited in an X-linked dominant pattern. A condition is

considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex chromosomes). The inheritance is dominant if one copy of the altered gene is sufficient to cause the condition.
 In most cases, males experience more severe symptoms of the disorder than females because males only have one X chromosomes.

• Craniofacial abnormalities

Symptoms

• Underdeveloped upper jaw bone (maxillary hypoplasia)
• Abnormally prominent brow
• Downslanting eyelid folds (palpebral fissures)
• Widely spaced eyes (hypertelorism)
• Large ears
• Unusually thick eyebrows

•
•
•
•
•
•
•
•
•
•
•
•

Mental retardation
Short stature
Hypotonia
Feeding problems
Respiratory problems
Developmental delay
Hearing impairment
Awkward gait
Flat feet
Heart problems
Kidney problems
Growth deficiency

Symptoms part 2
•
•
•
•
•
•
•
•
•
•
•
•
•
•
•
•
•
•
•
•

Mental deficiency
Weakness
Reduced muscle tone
Coarse face
Down slanting space between eyelids
Maxillary hypoplasia
Widely spaced eyes
Prominent brow
Short nose
Broad nose
Thick nose flaps
Thick nose septum
Forward tilting nostrils
Large mouth
Open mouth
Thick lower lip
Everted lower lip
Prominent ears
Missing teeth
Malocclusion

Tests

 Ribosomal S6 kinase enzyme assay, is transformed into lymphoblasts, this may

show the mutation with the gene RPS6KA3, that is related to CoffinLowry Syndrome.
 Other tests performed are the sequence analysis and the mutation scan.
 The mutation scan completes a bidirectional sequencing of all exons and the intron-exon boundaries of RPS6KA3 gene, showing mutations of this gene.
 People with CLS should be provided with opportunities to develop communication skills and to participate in activities and self-care in order to develop a degree of independence.
 There are not to many medicines but there is been trials with antiepileptic drugs and
Benzodiazapine.
 Use of a wheelchair may be required to prevent falling and injuries.

Story
 Cristin Lind has two children, one of them named Gabriel, who has coffin-

lowry syndrome Gabe was born without any obvious symptoms, but within six months Lind and her husband, Dan, learned he had a congenital cardiac abnormality and muscle weakness. Over time, more symptoms appeared, but it wasn't clear what he had. In 2010 she sold her business and decided to take the year off to focus full-time on Gabe’s needs. During this time, Lind hired a personal care attendant; worked with a special education consultant, a lawyer, and specialists to get Gabe placed in an out-of-district special education school; and joined advocacy organizations and a support group.
 She joined the Collaborative CHIPRA Team as a Parent Partner after
Mary
Saginario, Cambridge Pediatrics’ Team Lead contacted her.
She decided to commit to the two-and-half-year project, Lind said that the reason was beneficial.
“I know for myself that I do a better job of advocating for my son who has special needs and my daughter who doesn’t, when I learn as much as I can about what’s happening in healthcare, pediatric healthcare, disability rights, and special needs advocacy.”

Story part 2
 Eventually Gabe’s day-to-day activities became more settled and his mom

felt ready to return to work part-time. By then it was obvious that she was really interested in working for families and children with special needs, but she didn’t know exactly how.

Organizations
 Coffin-Lowry Syndrome Foundation
 http://clsf.info/
 The purpose of CLSF is to provide a clearinghouse for information on

Coffin-Lowry Syndrome (CLS), and to provide families affected by CLS a general forum in which to exchange information, ideas and advice.

 National Institute of Mental Help
 http://www.nimh.nih.gov/index.shtml
 The purpose of this organization is to do research to help people understand

mental illness cause by genetic disorders.

Organizations part 2
 National Organization of Rare Disorders
 http://www.rarediseases.org/
 NORD provides information about rare diseases and related resources
to

patients, family members, and others.

Work cited MLA format
 Hunter, Alasdair, and Fatima Abidi. "Coffin-lowry Syndrome." NCBI. Google, 16

July 2002. Web. 20 May 2013. <http://www.ncbi.nlm.nih.gov/books/ NBK1346/>.
 Esswein, Arthur. "Coffin-lowry syndrome." Genetics Home referene.
Google, 13 May 2013. Web. 20 May 2013. <http://ghr.nlm.nih.gov/condition/ coffin-lowry-syndrome>.
 Pereira, Patricia Marques, Anne Schneider, and Solange Pannetier.
"Coffi-loery
syndrome." european journals of human genetics. google, 4
Nov. 2009. Web. 20 May 2013. <http://www.nature.com/ejhg/journal/v18/n6/full/ ejhg2009189a.html>.

Work cited MLA format part 2
 Young, Hanauer. "Coffin-Lowry syndrome: clinical and molecular

features÷." Jmedgenet. google, 6 July 2010. Web. 20 May 2013. <http://jmg.bmj.com/content/39/10/705.full.pdf>.
 Staff, FDNA. "Coffin-Lowry Syndrome." FDNA. Google, 19
Mar. 2012. Web. 20 May 2013. <http://fdna.com/resource-center/conditions-anddiseases/ coffinlowry-syndrome>.
 Havaligi, Navasuma, and Chandra Matadeen-Alig.
"Treatment of Drop attacks in coffin-lowry syndrome." Elsevier. google, n.d. Web. 20
May 2013. <http://clsf.info/Literature/GBH.pdf>.