3+4+Supplementum/2012 - Společnost pro pojivové tkáně

is caused by mutations in PEX7 which
encodes the peroxisomal targeting signal
receptor. RCDP 2 – with location at
1q42, which encodes DHADAT enzyme.
CDPX1 – ARSE (arylsufatase), is one of the
sulfatase genes, located at Xp22.3 close to
the pseudoautosomal region. We know
another ARS genes, which are the result of
an ancestral duplication event. CDPX 2 is
gene for EBPA8A7 - sterol isomerase emopamil
binding protein, with broad mutation
spectrum.
Craniometaphyseal dysplasia
Heterogenic group of diaseases.
Usually wit chromosomal location 5p15.2 –
p14.1 or 6q21-22 (extremely rare). We
know only gene at 5p, progresive ankylosis
gene, which mutations are autosomal
dominant inherited. This gene encodeds
a transmembrane protein involved in the
transport of intracellular inorganic pyrophosphate
into extracellular matrix.
diastrophic dysplasia
The gene is located at 5q32 to q33.1, it is
gene for diastrophic dysplasia sulfate transporter
and mutational spectrum involve
splice site and missense point mutations
with a loss of function effect, molecular
pathogenesis is in impaired uptage of sulfate
into cartilage. This is connection to
the AR multiple epiphyseal dysplasia with
missense point mutation with loss of function
effect.
dyschondroosteosis =
leri weill disease
The causative gene is located at Xpter
to p22.32, SHOX gene (short stature home-
ambul_centrum@volny.cz
obox containing gene) is located in the
pseudoautosomal region at the tip of the
short arms of the X and Y chromosomes.
Haploinsufficiency for SHOX accounts for
the short stature in Turnerś syndrome in
which around of 5–10 % case also have
Madelungs deformity
langer mesomelic dysplasia
The same causative gene as at previous
nosologic unit. There are two deleted or
mutant SHOX alleles develops more severe
form of limb shortening. There is aplasia
or severe hypoplasia of the ulna and fibula
with thickening and bowing of the radius
and tibia
Hereditary multiple exostoses
Heterogenous group of similar diseases,
EXT 1 gene is located at 8q24.11 to
q24.13, EXT 2 to 11p11.2-p12, encode transmembrane
glycoproteins localized to the
endoplasmic reticulum form an oligomeric
complex, that act as a glycosyltransferase
(influence to the growth, differentiation or
migration). EXT 1 and EXT 2 are involved
in two contigous gene deletion syndromes.
Hypophosphatasia
Location of the gene 1p36.-p34, it is
gene for liver, bone and kidney alkaline
phosphatase and mutational spectrum is
missense point mutations with loss of function
effect.
Metaphyseal chondrodysplasia
Heterogenous group of diseases, with
different chromosomal location of the
genes and different molecular pathogenesis:
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