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Harlequin Ichthyosis

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by

Kelly Tran

on 10 December 2013

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Transcript of Harlequin Ichthyosis

Harlequin Ichthyosis
Mode of Inheritance: autosomal recessive
Both
males

and

females

affected
Both
parents must be carriers
and usually show no symptom
Type of Mutation: missense
One nucleotide change (point mutation) results in a codon that
codes for a different amino acid
One amino acid replaced by another causes a
loss of function
of the ABCA12 protein, which affects development of skin
Gene Name:
ATP-binding cassette, sub-family A (ABC1), member 12
Abbreviation:
ABCA12
# of Base Pairs (DNA Sequence):
9192 Base Pairs
Chromosome #: 2
# of Amino Acids (Amino Acid Sequence):
2595 amino acids
Protein:
ATP-binding cassette sub-family A member 12
AKA:
ATP-binding cassette transporter 12
Function of Protein:
a transport protein
that transport fats (lipids) to cells that make up the epidermis (outermost layer of skin)
Name of Disease:
Harlequin Ichthyosis


# of Base Pairs (DNA Sequence): 9192

# of Amino Acids (Amino Acid Sequence): 2595
Name of Protein
: ATP-binding cassette transporter 12 (
ABCA12
)
Function of Protein
:
a transport protein
that transport fats (lipids) to cells that make up the epidermis (outermost layer of skin)
Mutation
: Without the ABCA12 protein,
fats will not be transported properly to cells that need them to make their membranes, skin cells will become physically inhibited
, and abnormal skin will result
Disease
: Harlequin Ichthyosis (Fishscale Disease)
Chromosomal shorthand
: 2q34 (long arm of chromosome 2 at position 34)
Location
: base pair 215,796,265 to base pair 216,003,150 (on chromosome 2)
Chromosome #2
Gene: ABCA12
Nucleus
Cytoplasm
The Cell
Transcription
Translation
References:
ABCA12. (2008, November). Retrieved November 27, 2013, from Genetics Home
Reference website: http://ghr.nlm.nih.gov/gene/ABCA12
Goldsmith, T., & Fuchs-Telem, D. (2013, September 29). Homo sapiens ATP-binding
cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 3,
non-coding RNA. Retrieved December 1, 2013, from National Center for
Biotechnology Information website: http://www.ncbi.nlm.nih.gov/nuccore/
NR_103740.1
p arm
q arm
References:
ABCA12. (2008, November). Retrieved November 27, 2013, from Genetics Home
Reference website: http://ghr.nlm.nih.gov/gene/ABCA12
Chromosome Ideogram
Inside the Cell
Inheritance
Symptoms & Characteristics of Disease
Main Symptoms:
Infant skin is hard, separated by deep cracks into thick and scaly patches
Restricts chest movement
- leads to respiratory problems
Restricts most physical movement
Excessive dehydration of skin

Possible Symptoms (due to pleiotropic gene):
Hypoplasia - have difficulty grabbing objects with fingers
Poorly developed ears/nose or no ears/nose
Everted eyelids (inside out) - may bleed right after birth
Polydactyly - extra digits
Impaired heat loss - body temperature changes quickly
Poor immune system
Who is affected?
Autosomal recessive - infants of
both genders
All ethnic groups
Babies are
diagnosed immediately after birth or during infancy
How common is it?
Very rare!
Why?
Recessive
inheritance - not expressed unless both parents pass on the gene
Lethal allele
- people affected usualy die before reproducing
Survivors
Nelly Shaheen
- oldest known survivor
Only 29 years old!
Hunter Steintz
- the only American (out of 12 known) who has survived
References:
ABCA12 - ATP-binding cassette sub-family A member 12 - human protein. (2011).
Retrieved December 1, 2013, from http://www.nextprot.org/db/entry/NX_Q86UK0
ABCA12 gene. (2013, October 23). Retrieved December 1, 2013, from
http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA12
Autosomal Recessive Inheritance Pedigree
References:
Harlequin ichthyosis. (2013, July 24). Retrieved December 1, 2013, from
http://medicaltreasure.com/harlequin-ichthyosis/
Who is Affected?
How common is this disorder?
Oldest Survivor - Nelly Shasheen
Life Expectancy
Very short lifespan
Most infants will die within a few days of birth due to systemic infection (affects multiple systems of the body)
Very difficult life
Scales make it difficult to bend your arms and legs
Normal skin forms a barrier that protects from disease and wounds, but this disorder disrupts this barrier and makes it very easy to contract serious illnesses.
Treatments
No true cure
Various drugs to relieve dehydration, respiratory problems, infections (due to open skin)
Retinoids - drugs that regulate epithelial cell growth, improves tissue growth and immune system
Sterile environment
Infants are bathed twice per day, with use of wet sodium chloride compresses and moisturizers to soften scaly skin
New Development/Research
May result in higher life expectancy
Different genes that cause this disorder may be found in the future
Technology - humidified incubator for newborns to regulate their body temperatures
Keeps baby warm and hydrated
Outlook and Quality of Life
References:
Harlequin ichthyosis. (2008, November). Retrieved November 25, 2013, from
Genetics Home Reference website: http://ghr.nlm.nih.gov/condition/
harlequin-ichthyosis
Harlequin ichthyosis. (2013, July 24). Retrieved December 1, 2013, from
http://medicaltreasure.com/harlequin-ichthyosis/
Video: Hunter Steintz
Contact: Fargo March of Dimes
No reply yet...
By:
Kelly Tran

Address:
1712 Main Avenue #101, Fargo, ND, 58103
Phone:
(701) 235-5530
Fax:
(701) 235-8725
E-mail:
ND407@marchofdimes.com
Facebook:
https://www.facebook.com/ndmarchofdimes
What's Their Mission?
"We're dedicated to improving the health of ALL babies by preventing birth defects, premature birth, and infant mortality through funding medical research, educational programs, and advocacy.
Both of those parents must be carriers in order for two of their children to have the disorder.
Retinoids
ABCA12
ABCB11*
****ABCB11 gene (2q24): causes different types of cholestasis, which impairs bile (a digestive fluid that helps the body process fat) secretion
Mutations of different genes on the SAME chromosome have different results!
Fun Video:
Blame It on The DNA!
Full transcript