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  Agnes Tay: DIAG: 11 messages, 4 PT requests  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 11 messages, 4 PT requests
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Thu, 30 Jan 1997 08:25:38 +1410

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  11 submessage(s):

1) Factor V Leiden

2) Rett Syndrome?--PT Request

3) 46,XY,del(11)(q21q23.3)--PT Request

4) Microsatellites

5) Lab testing for  CD56 or CD24

6) Chromosome#6 abnormalities--PT Request

7) CADASIL disease--PT request


9)Presenilin mutation studies

10) Saldino-Noonan Syndrome

11) Brain Tumor in MPS

Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section
1. Factor V Leiden

Genotyping for Factor V Leiden is already being offered by
laboratories in Europe and the US. I'm interested in hearing
views on how this trend will develop in the future, prefered
methods of performing the test and what would be the method
and format requirement you would want to perform
routine screening for this mutation.

Thanks in advance for your thoughts.

Tim Whiting
Zeneca Diagnostics
Blacklands Way
Abingdon Business Park
Abingdon, Oxon OX14 1DY.
email: tim.whiting@ukbla71.zeneca.com
2. Rett Syndrome? --PT Request
Apparent patient located: US

Out of the blue, a year and a half ago, my daughter, then 3-plus, began to
have terrible spells.  She screamed a blood-curdling scream non-stop, 24
hours a day.  She couldn't sleep, eat or drink.  She would drop her head
down on the bed, out of exhaustion, and then five minutes later, wake up
screaming again.  She pulled HANDFULS of hair out of her head.  Since she
can't talk, of course she couldn't tell me what was wrong. She began
posturing with her right arm, holding it bent, palm up---and having what
I've been told is ataxia.  (She rolled her eyes back.  When she crawled, it
was a staggering, drunken crawl.  She had uncontrollable movements of her
upper body---arms, head, shoulders.)  After a week of this, the spell
suddenly ended.

A week later, it started up again.  Finally, she ended up in Pediatric Intensive
Once again, the spell ended after about 7-10 days.   Pyruvate Dehydrogenase
Deficiency was suspected at this point.  Luckily we did find a doctor who
prescribed Diamox and THANK GOD she hasn't had a spell like this since
she's been taking it---which she still does, 3 times/day.  (PDH was ruled
out.  The E1 gene was screened for a mutation and none was found.)

My daughter is now nearly five years old. She had normal (around the 50th
percentile) growth in length/weight until she was 6 months old.  Then, she
began to fall off the curve.  Sometimes she does just not want to eat at

She has 'slightly dysmorphic features and frontal bossing'.  She is
mentally retarded and has hypotonia.  Developmentally, she is around
11-12 months of age.  Her hips are very hyperextensive.  Her hands and feet
are very small. Her shoulders are VERY narrow.

Virtually all of her amino acids show some at least slight variance from
the norm. Serum alanine ranged from mildly to sometimes very highly
elevated.  She also had mildly elevated lactate and pyruvate.

Several EEG's have been done---all normal
She's had several MRI's of the brainThe latest one, done in 6/95, was the
first time dye was injected.  This was also the first time it was noted
that she had a 'probable right parietal lobe venous angioma".

Glycogen Storage Disease and Ceroid Lipofuscinosis have been excluded by
the doctors.

Our new ped. neurol. came up with the possibility Rett Syndrome
possibility.  Most recently she has become very irritable for no reason and
has also started scratching everything around her--including her own
body--with both her hands.

Can anyone help my child? Has anyone else seen any child like this?
3. 46,XY,del(11)(q21q23.3)--PT Request
Apparent patient location: US

I'm a mother of a 16 month old boy whose karyotype is 46,XY,del(11)(q21q23.3)

My son was diagnosed with in-utero stroke based on the
MRI done on his brain at birth, in which cerebral infarcts
were found on both sides.   He displays low muscle tone,
and delay in development, but no paralysis which would've
been expected from his MRI result according to a neurologist.
He is also very small in size-- 18.5 pounds at 16 months.  The
only visible abnormality is possibly that his thumbs seem rather
long.  He is slightly cross-eyed, and EEG indicated that he
might have some hearing loss in his left ear.
His gross motor skill ranges between 9-12 months.  He has
received physical therapy and infant stimulation since birth,
and he now goes to a county-run infant program twice a
week for 2 hours.

He has been "military crawling" for a while now, and is
sometimes able to pull himself up to standing.  He can get
into a sitting position on his own, and is learning to imitate
us nod and shake our heads and wave good-bye.  His
only sound so far is "Ma" or "mmmmMa" .

We have not received any information on his condition
and his doctors have no idea what to expect, although
we've been told that he will most likely have some sort of

We would appreciate any information, including any research ongoing into
this condition.

4. Microsatellites
I am a medical oncologistd involved in experimental research
of microsatellites instability in solid tumors. We are just
developing a program in this field and it would be very useful
for me to know how to get sequences of primers used to
study microsatellites. In many articles is reported only the
name of microsatellites with no data on sequences.
Thank you very much
With kind regards
Francesco Graziano

Dept. of Onco-Hematology
Hospital of Pesaro
email: frada@mbox.vol.it

5. Lab testing for  CD56 or CD24

Please forward list of laboritories in specifically Ontario
and generally Canada that test for the antigen CD56 or
the surface antigen CD24.Any help appreciated.

Thank You
Bryan Hoelscher
Canadian Cancer Research Group
5610 Richmond Rd.
Nepean, Ontario
K2H 7V2

6) Chromosome#6 abnormalities--PT request
Apparent patient location: US

I write to you searching for any information you may have on chromosone#6
abnormalities in children. I have a seven year old niece whose number six
chromosones are missing their ends.This child also has the following
problems; attention deficit, hyper-
activity, developmental delay, mild retardation, and micro- cephalism.
Doctors here have indicated that they have no information on the
chromosone abnormalityand do not know if some of the other problems
are related to the abnormality.
We would greatly appreciate any information you may have or anything else
you  think may be of help for this child.

7. Cadasil Disease--PT request
Apparent patient location: Morocco

I am a doctor practicing heart surgery in Morocco.In the summer of 1995,
I contracted what is refered to as the Cadasil disease.  I was
treated in Georgetown Medical University in Washington D.C
yet I did not get a clear diagnosis of my disease, it was
not until my trip to Paris, where I was hospitalized at the
Salle Petriere, in the Dr. Goudou's service.  They confirmed
to me that I had Cadasil disease, yet they knew little
about this newly discovered disease.  As of now my left leg is
paralyzed to a degree of 65% which makes it extremely difficult for me
to walk and work normally.   I would like any information
you have on this disease, which little is known about. I would
especially like information on its treatment. Please send me any information
to my e-mail adress or home adress which I will attach below.
Thank you very much for your coperation, and I hope to hear
from your department soon.
Dear colleagues
In our lab we are going to use the new D GENE System for mutation detection
by DGGE (BIO-RAD). We are studing the variability of HCV genome in terms of
quasispecies. Is there anybody who can give us good suggestions on the
application of these methodology in detection of sequence variation in
viral RNA?

Thank you in advance

Elena Donadel
email: labepvir@UX1.UNIPD.IT
9. Presenilin Mutation Studies
Dear Colleague,

We have identified a family with autosomal dominant Alzheimer's

The proband was one of six siblings, five of whom became demented. One
parent and an aunt had also had demntia. Premortem mutation analyses of the
prion protein gene and of a number of triplet repeat genes from the proband
were normal. We now have a detailed post mortem from the proband. This
person's brain has typical features of Alzheimer's and does not have
features of a prion dementia or of dementia of the frontal lobe type.

We do not have blood samples from other affected family members and hence
cannot do a preliminary linkage study to determine whether the gene
responsible is located on chromosome 1, 14, or 21. Unfortunately we only
have DNA from the proband; a skin sample collected at post-mortem failed to
yield a cell line.

The family are seeking presymptomatic testing. Are you able to assist us by
analysing genomic DNA for a germline mutation in either of the presenilin
genes or in the APP gene?

Yours sincerely,

Graeme Suthers.

Dr Graeme Suthers
SA Clinical Genetics Service
Centre for Medical Genetics
Women's & Children's Hospital
North Adelaide SA 5006

tel  (08) 8204 7375 (International prefix -61-8-)
fax  (08) 8204 6088 (International prefix -61-8-)
email      suthersg@wch.sa.gov.au (Using MSmail)
10. Saldino-Noonan Syndrome
I have a patient who had several
children affected with Saldino-Noonan
Syndrome (Type I, aka Short Rib
Polydactyly). He is now re-married to a
woman who is unrelated to his first
wife. Is anyone aware of DNA or other
carrier testing for this disorder?

Replies can be sent to me at:

Thank you.

Bob Resta
Perinatal Medicine
Swedish Medical Center
Seattle, WA

11. Brain Tumor in MPS
I have a 13 month old white female patient with clinical diagnosis of a
storage disease - most likely Hurler, but the confirmatory labs are
pending.  Head MRI done for investigation of an anterior fontanelle bruit
has revealed a mass lesion in the right hypothalamus/putamen and apparent
empty sella.

Question:  Does anyone know of any association between storage disorders
(particularly MPS) and brain lesions/tumors?


Angela E. Scheuerle, M.D.
Assistant Professor
Division of Medical Genetics
Department of Pediatrics
UT Health Science Center - Houston
6431 Fannin, MSB 3.144
Houston TX  77030

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