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

Pycnodysostosis
With the chromosomal location at the
1q21, this is gene for cathepsin K and
mutational spectrum included non sense,
missense and stop codon point mutations
with a loss of function effect, cathepsin
K encodes incoded the lysosomal enzyme
cystein protease.
Spondylocostal dysostosis
and dysplasia
Heterogenous group with chromosomal
location 19q13 with gene notch ligand
delta like 3. Mutation included insertion
and deletion (both have resulkt truncated
protein) or missense mutation. Molecular
pathogenesis included cell signalling in
mesodermal patterning in early embryonic
development
Vitamin dependent and resistant
rickets
The first group (VddR) include two
chromosomal location 12q23.3 for 25
hydroxyvitamin D3 1alfa hydroxylasis, this
is defective step in vitamin D metabolism
and 12q12-q14 location for vitamin D receptor
gene. Both genes have in mutational
spectrum loss of functional spectrum. The
second VdRR group is heterogenous too,
as the previous. Chromosomal location is at
12p13.3 with gwnw for FGF 23 or Xp22.1
for the gene phosphate regulating gene
with homologies to endopeptidases on the
X chromosome. Mutational spectrum for
both nosological units is broad, previously
missens mutation.
ambul_centrum@volny.cz
Cleidocranial dysplasia
Chromosomal location is 6p21 for gene
CBFA 1 (core binding factor, alfa subunit
1) with insertions, deletions and missense
point mnutations, which results to the loss
of function effect. Molecular pathogenesis
influence osteoblast and chondroblast differentiation
.
ellis van Creveld syndrome
The chromosomal location is 4p16,
gene s.c. EVC eith point mutations and
deletions with a loss of function effect, AR
inheritance.
Stickler syndrome
Heterogenous group, with chromosomal
location at 12q13.11 – q13.2 , this is gene
for col 2 alfa 1 chain and nonsense point
mutations in a premature stop codon (zero
effect), or with chromosomal location at
1p21, this is gene for col 11 alfa 1 chain, with
point mutations affecting splicing, Next one
type have chromosomal location 6p21.3,
this is gene for col 11 alfa 2 chain with missense
and splice site point mutation.
Trichorhinofalangeal syndrome
Three main types, type I with 8q24.12
location, this is TRPS gene with nonsense
point mutations and insertions, type II
with 8q24.11-q24.13 is presented deletion
of multiple genes including TRPS 1 and
EXT 1 and type III at 8q24.12 shown to
have missens mutation.
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