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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 9 messages (2 PT REQ.)  

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Subject: DIAG: 9 messages (2 PT REQ.)
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Fri, 7 Nov 1997 08:26:28 +0100
Posted-Date: Fri, 07 Nov 1997 08:26:28 +0100

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  7 professional and 2 patient requests:

1) Genetic susceptibility to infectious diseases

2) How to name this mutation ?

3) Juvenile onset leg pain

4) Patient with 46, XY, t(11,19) (p11.2;p13.3) translocation

5) Protein C deficiency

6) Difficult prenatal US

7) Geleophysic dysplasia, Acromicric dysplasia, Call for patients

8) Limb-girdle muscular dystrophy (pt request)

9) Defect of chromosome 16 (pt request)


Carlo Gambacorti, MD, Editor,           Min Ae Lee, MD, Assistant Editor
                           Human Molecular Genetics Network
                           Diagnostics/Clinical Research Section


1)      Genetic susceptibility to infectious diseases

Dear Editors,
I am Prof.Bamezai <bamezai@jnuniv.ernet.in> Incharge of the
Lab. of Human Genetics, School of Life Sciences, Jawaharlal
Nehru University, New Delhi, India. I have been working
in the area of Human Genetics for the past >20years.
I started my research career working in the area of
Prenatal Diagnosis in early and mid seventees. Since
then we have worked in different areas of clinical gene
tics. For the past 8 years we are working in the areas
of genetic susceptibility to infectious diseases like
leprosy and tuberculosis and also cancer, taking Bloom
syndrome cell lines as an in vitro model. Our two
publications in 1997 in Leprosy have appeared in Human
Genetics vol.100:pp.30-34 and 43-50. In case more information
is required, I will be glad to provide. I am looking forward to
more exchanges and interaction and collaboration, regards.


2)      How to name this mutation ?

Dear colleagues,
I am a medical doctor and a researcher at the Division of Molecular
Pathology, Institute for Medical Research, Kuala Lumpur and the
Department of Paediatrics, Kuala Lumpur Hospital, Malaysia.  I would be
grateful if you could advice me on the following:

1.  How to name this mutation:

Wild type AG  ; Mutant C
The 3rd nucleotide (nucleotide no, say 105) of codon 35 is A and the
first nucleotide of codon 36 is G  (i.e. nucleotide 106 is G).  There
has been a frameshift mutation as well as a base substitution.

2.  Are there pedigree drawing programs available free (on-line) which
can be used to draw pedigrees for submission to journals?


Alan Khoo Khoo <alankhoo@IMR.GOV.MY>


3)      Juvenile onset leg pain

I'm a human geneticist and may have identified a large family with
an autosomal dominant inherited form of juvenile onset leg pain (transient
intense deep bilateral leg pain, juvenile onset, symptoms diminish with
age).  Can anyone tell me which category of syndromes this disorder might
belong to and if they have knowledge/access to other similarly affected
Yours gratefully

Corinne L Lendon (PhD),
Research Instructor of Genetics,
ADRC Post Doctoral Fellow,
Dept Psychiatry, PO Box 8134,
Washington University School of Medicine,
4940 Children's Place,
St Louis, MO 63110,
voice mail 314 362 8668,
lab: tel 314 362 8670,
fax 314 362 8649,
email Lendon@icarus.wustl.edu


4)      Patient with 46, XY, t(11,19) (p11.2;p13.3) translocation

Our patient has 46, XY, t(11,19) (p11.2;p13.3) translocation--globally
developmentally delayed, digitalized thumbs, brachycephaly, small
downturned mouth, mild midface hypoplasia, bilateral extra skin fold
medially under lower eyelid.  He was small for gest. age, supraventricular
tachycardia, hyperbilirubinemia, hypoglycemia--all resolved.  Relatively
normal retinal exam;  however, he shows some diffuse pigmentary mottling
which might represent an underlying retinal dystrophy.

Is the translocation balanced and just a red herring in a boy affected with a
Mendelian disorder?
Does anyone have similar patient phenotypically or similar translocation?
Are the findings related to the translocation which has been reported-no
cytogenetically detectable deletion?
Does anyone have FISH probes for regions involved?
Anyone interested in doing molecular investigation for deletion?

Joanne Sutherland, MSc
Genetic Counsellor, Eye Genetics Team
Solutions By Sequence Co-Ordinator
Retinoblastoma Mutation Analysis
Eye Clinic
Dept. Ophthalmology-Main Floor Elm Wing
Hospital for Sick Children
555 University Avenue
Toronto, Ontario
M5G 1X8
Phone:  416-813-7822
FAX:    416-813-6261
email:  jsuthe@sickkids.on.ca


5)      Protein C deficiency

I am looking for information on protein C deficiency in the blood system.
The patient in question is a 14-year old male who complained of migraine-like
headaches.  Hospital tests showed a low protein C count (currently 39).
Father and mother have been tested and shown not to be carriers, i.e. the
is thought to result from a mutant gene.  The patient has been told that
while there
is a risk of thrombosis there is no treatment available and he will need to
return for
further tests and possible treatment when he is 18.  Can anyone provide
information on this condition or suggest avenues of treatment which should be

Many thanks,

Prof. A. Maxwell
Dept Biochemistry
Univ. Leicester
Leicester LE1 7RH
TEL: 0116 252 3464
FAX: 0116 252 3369
email: ony@le.ac.uk


6)      Difficult prenatal US

Dear colleagues,
We need help in counseling a family in which a fetus was found to have
renal findings which we find difficult to interpret. The mother is a 30
year old G1 and had an US study at 22.3 weeks of gestation. Relative
oligohydramnios (AFI 9, normal >12), and large hyperechogenic kidneys were
visualized (renal circumference 80 mm, expected: 54 mm; renal length 35
mm, expected: 25 mm). No renal, liver, pancreas or brain cysts were found
and no other malformations were seen. Triple screen was normal. The
parents have a common ancestry, but are not related. The parents have
normal kidneys (US) and there is no family history of kidney disease.
Screening for Tay Sachs, CF and FRAX was normal. Chromosomes were not

Please reply to Moshe Frydman MD,
Genetics institute,
Sheba Medical Center,
Tel Hashomer, Israel
Fax 972-3-5302914
E-mail mfrydman@post.tau.ac.il


7)      Geleophysic dysplasia, Acromicric dysplasia

Call for Patients
We are initiating a study of geleophysic dysplasia to describe the
natural history of the disorder, detail any variability in the
radiographic or physical appearance, and identify the biochemical and
molecular defect(s).  Some cases of acromicric dysplasia may be related
to geleophysic.

To collaborate in this study please contact:
Bill Wilcox, M.D., Ph.D.
Medical Genetics
Cedars-Sinai Medical Center
8700 Beverly Blvd., SSB-3
Los Angeles, CA 90048
(310) 855-6673


8)      Limb-girdle muscular dystrophy (pt request)
        Apparent location: USA
        Please reply directly to HumMolGen

I have an incurable, untreatable neuromuscular disease, probably autosomal
dominant limb-girdle muscular dystrophy.
How does the body recognize that a gene is dominant?  Is there something in
the sequence of the coding for protein synthesis or is it more likely in the
genetic material between genes?
What is the current state of research in discovering how to inactivate a
defective dominant gene?  I recently read about three researchers trying to
change the way a cell "reads" a defective gene using antisense
oligonucleotides.  (I need a definition of that term.)  Is such research
still in its infancy?
Last December when Vical received a patent for their method of injecting
naked DNA into muscle cells, it sounded like exactly what I need.  Of course,
my exact gene defect has not yet been identified, much less located,
sequenced, and reproduced.
Any information would be greatly appreciated.


9)      Defect of chromosome 16 (pt request)
        Apparent location: Brazil
        Please reply directly to HumMolGen

A mother is looking for info regarding chromosomal defects of chromosome 16.
She was told that her son with no apparent dysmorphic features but marked
developmental delay has a defective cromosome 16.


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