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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 11 messages (4 PT REQ.)  

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Subject: DIAG: 11 messages (4 PT REQ.)
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Wed, 21 Jan 1998 09:40:46 +0100
Posted-Date: Wed, 21 Jan 1998 09:40:46 +0100

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  7 professional and 4 patient requests:

1) Glycogen storage disease type 1b

2) Noonan syndrome

3) Perinatal hemochromatosis

4) Acromesomelic dysplasia

5) Marfan syndrome

6) Familial dissecting aneurysm

7) Mitochondrial disorder

8) Identical twins of opposite  sex (pt request)

9) Tetrasomy X ( 48 XXXX); (pt request)

10) Spinal muscular atrophy III (pt request)

11) Adrenomyeloneuropathy  (pt request)


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


1)      Glycogen storage disease type 1b

Dear colleagues

We have recently cloned a human cDNA coding for a glucose 6-phosphate
translocase which is mutated in three glycogen storage disease type 1b
patients (FEBS Letters, 1997, 419, 235-238). We are interested in pursuing
the analysis of this gene by SCCP and therefore are looking for samples of
more GSD 1b patients. These samples could be genomic DNA or material from
which we could extract DNA (whole blood, white blood cells, tissue
biopsies). If you would like any more information please do not hesitate to
one of us. We thank you for your help.

Maria Veiga da Cunha
Emile Van Schaftingen

Laboratory of physiological chemistry
Institute of cellular and molecular pathology
Catholic University of louvain
75, Av. Hippocrate
B-1200 Brussels, BELGIUM
Tel: 32-2-7647565(4)
Fax: 32-2-7647598
e-mail: veigadacunha@bchm.ucl.ac.be (Maria Veiga da Cunha)
        vanshaftingen@bchm. ucl.ac.be (Emile Van Schaftingen)


2)      Noonan syndrome

I am trying to seek clarification/perspectives on a set of disorders I have
come across whilst
looking for genetic disorder mapping to human 12q. Noonan syndrome has been
mapped to 12q (Jamieson
1994, Nat.Genet. 8:357-360, but scouring through literature I have come
across reports that suggest
Noonan syndrome shares characteristics with Cardio-Facio-Cutaneous syndrome
and LEOPARD syndrome,
and some or all of these may represent manifestations of the same entity.
Are there any views out
there on this point. Also is there any evidence that any or all of these
may be contiguos gene disorders
caused by deletions taking out several genes, or conversely that these are
single gene defects?

Thanks for your help.

David C. Hughes, PhD
MRC Institute of Hearing Research,
University Park,
University of Nottingham,


3)      Perinatal hemochromatosis

Our lab has been contacted by a genetic counselor who has a case of
perinatal hemochromatosis (intrauterine death at 21 weeks, ascites, edema,
heavy iron deposits in myocardium, renal tubes, testes and pancreas),  The
parents are of Yemen/Iraq origin and are not consanguinous.  The
genetic counselor was interested if we could perform testing for
hemochromatosis (i.e. the Cys282>Tyr mutation, I presume) but from what I
have read and from information from the GI doctors here, perinatal
hemochromatosis is NOT the same disease as that caused by HFE (HLA-H).  I
was, therefore, wondering if anyone out there was studying perinatal
hemochromatosis and could give me any additional information or who would
be interested in tissue from this child for analysis.

Janice A. Nicklas, PhD
Research Associate Professor of Medicine
Director, Molecular Diagnostic Laboratory
Director, VCC DNA Analysis Facility
University of Vermont

Genetics Lab
32 N. Prospect St.
Burlington, VT  05401
TEL# (802) 656-0016
FAX# (802) 656-8333


4)      Acromesomelic dysplasia

I have recently diagnosed a child, product of first cousin marriage,
first child also, with acromesomelic dysplasia. I would like to know who
can assist us in mutation analysis in this family. Ling-yu Shih M.D.
Telephone 973-972-3326, fax 973-972-5040, Rm F536 M.S.B. Dept. Pediatric,
N.H. Med School. 185 S Orange Ave. Newark, N.J. 07103 U.S.A. Thank you


5)      Marfan syndrome

Dear Colleagues,
I am a researcher in the field of human molecular genetics from Israel.I am
looking for a medical center in the New-York city area (Fairlawn) to refer
a child with a suspicion of marfan or marfan like syndrome. Please could
you also indicate the name of a clinical expert for this disease and the
name (and adress) of a laboratory looking for mutations in the fibrillin
gene in new-york area.
I understand that this site is more research oriented. In case you could
not help me directly could you please refer me to appropriate information

Dr Nadine Cohen
Technion Faculty of Medicine
Department of Genetics


6)      Familial dissecting aneurysm

Dear colleagues,
Our patient, 32-year old male, has multiple dissecting aneurysms
affecting common hepatic, renal, mesentric, iliac and splenic arteries.
Histological examination of specimens obtained at surgery revealed a
loss of elastic fibers and deposition of muchopolysaccharide-like
material in the media, suggesting medionecrosis as a cause of dissecting
aneurysm. He has no history of systemic hypertension. Marfan syndrome
had been ruled out based on his clinical manifestations. His mother and
aunt both died from rupture of aortic aneurysm at 49 years of age. This
implies a genetic background underlying the disease.  Any information
would be greatlly appreciated regarding this type of "familial dissectin

Yoshihisa Nojima, M.D.
Third Department of Internal Medicine
Gunma University School of Medicine
3-39-15 Shouwa, Maebashi, Gunma 371, Japan
Fax; 0272-20-8173
E-mail; ynojima@news.sb.gunma-u.ac.jp


7)      Mitochondrial disorder

Dear HMG List Membership,
I have a young mother in Durban, South Africa, with a four year old son who
is severely ill with a mitochondrial disorder; tentative diagnosis is
either MELAS or Leigh's.  She has been unable to locate a physician in her
area that is familiar with mitochondrial disorders, and this is negatively
affecting the treatment of her son's condition.
It is my concern that if a physician with adequate knowledge and experience
with mitochondrial disorders is not found for this family, that the
resulting course will be the accelerated death of this child.
Please, any information on possible contacts in the geographical area of
South Africa will be most graciously appreciated.  I may be contacted at
the following address/phone number, or at the email address in my signature

MELAS Online Network
P.O. Box 16143
Augusta, GA 30919-2161
Telephone: 1-706-228-4044

Sincerely yours,
                        Mike Jackson

8)      Identical twins of opposite  sex (pt request)
        Apparent location: USA
        Please reply directly to HumMolGen

I have been lurking long enough.
Over 15 years ago I started some personal research with a view to writing
a book. Then I got side-tracked, by life and circumstances. Now..  I'm
>>I have two references in the literature to identical twins of opposite
>>sex, in which the phenotypic female is an XO Turner's syndrome. (Schmidt
>>et al 1976; Edwards et al, 1966)
>>I would like to follow this up somehow.
>>For example, does this mean the male twin is necessarily a mosaic? Or to
>>be more naive, where did the other X go? And to be really dumb: are there
>>degrees or extents or mosaicism?
>>The little reading I have done doesn't make it clear to me the mechanism
>>and so on for mosaicism. Is it at all really well understood?
>>And are there degrees of identicalness? Is a twin resulting from
>>separation at the 2-cell stage more identical than, say, a twin
>>separating from the 16-cell stage? Can twins be unequal, for example, one
>>cell vs three cells from an unequal division at the 4-cell stage. And so
>There are well documented (on ultrasound for example) of singleton births
>>after an initial twin pregnancy. Some of these males may have had
>>Turner's syndrome twins. Is there some way, practically or theoretically,
>>of investigating this.
>>As you can tell I am not a geneticist, clincial or otherwise, and I
>>realise from a few months of observing this list that the usual concerns
>>are a bit different, which is why I am asking directly, because I have
>>given up hoping to get any answers or directions from merely observing
>>the list content.
>>If there is a medical text you can recommend perhaps?
>>I will go back into the library for a more up-to-date literature search.
>>Any other suggestions or advice welcome.
>>I graduated with a medical degree in 1980 and have worked in general
>>family medical practice since then and now want to finish some of my
>>unfinished business before I die and get old.
>>Kind regards,


9)      Tetrasomy X ( 48 XXXX); (pt request)
        Apparent location: USA
        Please reply directly to HumMolGen

I am trying to find out pertinent information on
tetrasomy( 48 XXXX, tetrasomy X). I have a family member recently diagnosed
with with this disorder and have had little luck finding much information .
In particular, I am interested in short and long term prognosis and
guidance in special treatment and education that would benefit this infant.
Thank you for your help.


10)     Spinal muscular atrophy III (pt request)
        Apparent location: Switzerland
        Please reply directly to HumMolGen

Please send me or let me know the latest research results
relative to the above-mentioned disease SMA III.
Is there any new medicine or therapy related to newest
research? Beside the medicine for ALS from Rhone-Poulenc?
Thank you very much in advance for your help. It is for a
little 2 years old boy and his parents would do anything
they could!
Kind regards


11)     Adrenomyeloneuropathy  (pt request)
        Apparent location: USA

I am a twenty-six year old male who suffers from adrenomyeloneuropathy and
am currently not undergoing any sort of treatment.  I am curious as to what
kind of information (treatment/prognosis) is available on this subject.
Thank you


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