Cri-Du-Chat

A Genetic Disorder

you might not know about...

Cri-Du-Chat Syndrome

"Cry of the cat"

• 1/50,000 Births (~1%)

• Most Common Deletion Syndrome

Discovery

Jérôme Lejeune

French Genetisist

Overview:

Physical Expression

Genes

Inheritance

Diagnosis

Treatment

Mutations

The Cry...

What to look for

Phenotypes

Inheritance

10%

Inheritated - "Autosomal Dominant"

90%

De Novo

10% ...

Balance / Unbalanced Translocation

Unbalanced Translocation

Balanced Translocation

Parental Translocation

90%...

De Novo

" A New "

Mosaicism

De Novo Deletion

The Genes affected

A closer look...

Critical Regions

Speech Delay Cat-Like Cry Facial Abnormality in Child Facial Abnormality \ in Adult Physical Abnormalities & Server Developmental Issues Mild developmental Issues Server / Moderate developmental Issues

• p.15.2 Physical abnormalities and developmental issues

• p.15.3 Cat-Like Cry (Markers D5S13 & D5S731)

• p.15.3 Speech Delay (Different Loci)

• p.13 - p.15.2 Break Points

15.3

15.2

15.1

14

13

12

11

The TERT Gene

Telomerase reverse transcriptase

TERT Gene

Not Enough Protein Made for Function

Haploinsufficiency

TERT Gene Deletion

Diagnosis

Treatment

Links:

https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/#frequency https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1574300/figure/F1/ https://omim.org/entry/187270?search=cri-du-chat&highlight=%22cri%20du%20chat%22%20%22cri%7Cdu%7Cchat%22%20%28criduchat%7C%20%29%20criduchat https://omim.org/entry/123450#2 https://jmg.bmj.com/content/38/3/151 https://my.clevelandclinic.org/health/diseases/24084-cri-du-chat-syndrome https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-33 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180356/ https://learn.genetics.utah.edu/content/disorders/unbalanced https://medlineplus.gov/genetics/gene/tert/#conditions https://www.lejeuneclinic.com/about-us/jerome-lejeune https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/ https://my.clevelandclinic.org/health/diseases/24084-cri-du-chat-syndrome#:~:text=Is%20cri%20du%20chat%20autosomal,family%20history%20of%20the%20disorder.

"Clinical and Molecular Characterisation of 80 Patients with 5p Deletion: Genotype-phenotype Correlation." Journal of Medical Genetics, 1 Mar. 2001, jmg.bmj.com/content/38/3/151. "Cri Du Chat Syndrome." BioMed Central, 5 Sept. 2006, ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-33. "Cri Du Chat Syndrome." NORD (National Organization for Rare Disorders), 14 Sept. 2017, rarediseases.org/rare-diseases/cri-du-chat-syndrome/. "Cri Du Chat Syndrome." PubMed Central (PMC), www.ncbi.nlm.nih.gov/pmc/articles/PMC1574300/figure/F1/. "Cri Du Chat Syndrome." NORD (National Organization for Rare Disorders), 14 Sept. 2017, rarediseases.org/rare-diseases/cri-du-chat-syndrome/. "Cri-du-chat (Cat's Cry) Syndrome: Symptoms & Causes." Cleveland Clinic, my.clevelandclinic.org/health/diseases/24084-cri-du-chat-syndrome. "Cri-du-chat Syndrome." MedlinePlus - Health Information from the National Library of Medicine, medlineplus.gov/genetics/condition/cri-du-chat-syndrome/#frequency. "Deletion of the Telomerase Reverse Transcriptase Gene and Haploinsufficiency of Telomere Maintenance in Cri Du Chat Syndrome." PubMed Central (PMC), www.ncbi.nlm.nih.gov/pmc/articles/PMC1180356/. "Entry - #123450 - CRI-DU-CHAT SYNDROME - OMIM." Home - OMIM, omim.org/entry/123450#2. "Entry - *187270 - TELOMERASE REVERSE TRANSCRIPTASE; TERT - OMIM." Home - OMIM, omim.org/entry/187270?search=cri-du-chat&highlight=%22cri%20du%20chat%22%20%22cri%7Cdu%7Cchat%22%20%28criduchat%7C%20%29%20criduchat. "The First Three Mosaic Cri Du Chat Syndrome Patients with Two Rearranged Cell Lines."

Work Cited