Table of Contents
1
UI - 11807867
AU - Cohen A; Mulas R; Seri M; Gaiero A; Fichera G; Marini M; Baffico M;
TI -
Camera G
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian
patient: clinical evaluation and analysis of possible candidate genes.
SO - Am J Med Genet 2002 Jan 1;107(1):48-51
AD - Department of Pediatrics, Saint-Paul Hospital, Savona, Italy.
cohen.amnon@mail.sirio.it
We report on an Italian boy with the Meier-Gorlin syndrome
(ear-patella-short stature syndrome). This rare autosomal recessive
disorder comprises the triad of microtia, absent patellae, and growth
retardation with prenatal onset. The patient had also an acute torsion
of his left spermatic cord, a condition related to a congenital defect
of the tunica vaginalis. Because this syndrome had been suggested as the
human equivalent of the short ear mouse [Lacombe et al., 1994: Ann.
Genet. 37:184-191], a mutation analysis of the BMP5 gene was performed
and found normal. The LMX1B and the SHOX genes were also evaluated
considering the absent patellae and short stature, respectively, and
were found normal as well. Copyright 2001 Wiley-Liss, Inc.
2
UI - 11737984
AU - Sandor GK; Carmichael RP; Coraza L; Clokie CM; Jordan RC
TI -
Genetic mutations in certain head and neck conditions of interest to the
dentist.
SO - J Can Dent Assoc 2001 Nov;67(10):594
AD - Faculty of Dentistry, University of Toronto, Toronto, Ontario, Canada.
gsandor@sickkids.ca
This article identifies certain syndromes of the head and neck, which a
dentist may see in clinical practice, and relates these syndromes to
their sites of mutation on involved genes. This paper is timely with the
near completion of the Human Genome Project, the mapping of the entire
human genetic material. Knowing the site of the genetic lesion is
important in helping clinicians understand the genetic basis for these
conditions, and may help in our future understanding of remedies and
treatments.
3
UI - 11693563
AU - Giardina C; Caniglia DM; Lettini T; Valente T; Poliseno G; Tantimonaco
TI -
L; Favia G
Morphometric discrimination between syndromic (Gorlin) and nonsyndromic
keratocysts.
SO - Anal Quant Cytol Histol 2001 Oct;23(5):373-80
AD - Department of Pathological Anatomy and Genetics, University of Bari,
Italy.
OBJECTIVE: To search for morphologic nuclear features in the epithelial
lining of odontogenic keratocysts to differentiate simple from Gorlin
syndrome cysts. STUDY DESIGN: Five cases of syndrome-associated
keratocysts and five of simple ones were studied. Thirty nuclei from the
epithelial basal layer for each case were analyzed by the shape
analytical morphometry (SAM) software system to quantitatively evaluate
nuclear dimensions (area, perimeter, diameter), contour irregularities
and nuclear shape asymmetries. Results were subjected to Student's t
test and cluster analysis. RESULTS: Values of nuclear dimensions were
very close in both groups of keratocysts, without any significant
statistical differences. The variables related to nuclear profile
irregularities, as well as those describing nuclear asymmetry, showed
significantly higher values (P < .001) in syndromic cysts. Cluster
analysis produced two different clusters by using variables related to
nuclear contour irregularities. CONCLUSION: Preliminary results indicate
the existence of nuclear morphologic differences between simple and
syndromic cysts.
4
UI - 11718263
AU - Corcoran RB; Scott MP
TI -
A mouse model for medulloblastoma and basal cell nevus syndrome.
SO - J Neurooncol 2001 Jul;53(3):307-18
AD - Department of Developmental Biology, Howard Hughes Medical Institute,
Beckman Center, Stanford University School of Medicine, CA, USA.
Medulloblastoma (MB), a tumor of the cerebellum, is the most frequent
type of malignant childhood brain tumor. Multiple genes are causally
involved in medulloblastoma including PATCHED1 (PTCH). The Patchedl
(Ptc1) protein is a receptor for Sonic hedgehog (Shh), a secreted
protein ligand. Shh is involved in many signaling processes that control
cell fate and growth, among which is its emission from Purkinje cells in
the developing cerebellum. Purkinje cell-derived Shh stimulates mitosis
of the granule cell precursors that may be the cell type of origin in
medulloblastoma. Ptc1 limits the effects of the Shh signal, so mutations
in PTCH may lead to persistent granule cell precursors susceptible to
further genetic or environmental events that cause medulloblastoma. Mice
heterozygous for patched (ptc1) mutations, like heterozygous PTCH
humans, have a high rate of medulloblastoma as well as other tumors. We
discuss features of the mouse model and how it is contributing to
understanding the process of brain tumorigenesis.
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