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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 9 messsages/4 PT Req.
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Fri, 22 Nov 1996 10:37:53 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

**************************************************************
           HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains 9 submessage(s):

1)      Genotyping archeological remains

2)      anti-trypsin deficiency/autopsy

3)      Urbath-Wiethe (lipoidproteinosis)

4)      Byler Disease (Liver disease)/PT Req.

5)      6p24 to 6pter deletion/PT Req.

6)      Wolfram's syndrome-DIDMOAD/PT Req.

7)      Hereditary bone dysplasia (McKusick #112250)

8)      OLIVOPONTONEOCEREBELLAR HYPOPLASIA/PT Req.

9)      ACC (aplasia cutis congenita)



  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics Network
  Diagnostics/Clinical Research Section


**************************************************************
**************************************************************

 Hi everyone:
I was invited to collaborate with some archeologists and they send some
human bones to me. I need to know what are the best methods in order to get
DNA out of those bones and which might be the best markers to genotype
them. The archeologists are interested in knowing if the bones belong to
the same group, family etc.
Thank you for any information or reference.
Jose Mejia
jmejia@po-box.mcgill.ca
fax: (514) 398-4370.

**************************************************************

We have an autopsy problem case of a young man who had an undiagnosed liver
disease pre-mortem, which on liver biopsy was thought to possibly be alpha one
anti-trypsin deficiency, but serum was reported as normal levels of MM.  He
died suddenly and at autopsy he has bridging fibrosis, striking DPAS granules
that look all the world like alpha one antitrypsin as well as plexogenic
pulmonary vasculopathy (which can be seen in any chronic fibrosing liver
disease, but which presumably explains his sudden death).  It is a consult case
and lungs were not well inflated precluding assessment of emphysema.  Does
anyone have any ideas on "false negative" alpha one levels and is there any
more workup we can do now?

Robert Homer, MD-PhD                    e-mail  Homer@biomed.med.yale.edu
Asst Prof of Pathology                  fax     203 785 7303
Yale University School of Medicine      tel     203 785 2788
PO Box 208023
New Haven, CT 06520-8023

**************************************************************

We would like to develop linkage studies in a family with Urbath-Wiethe
(lipoidproteinosis)
with two members affected out of a kindred of 7 with both parents alive.
Further details may be sent upon request.

Prof. Walter Oleschko Arruda
Department of Neurology
Hospital de Clmnicas
Universidade Federal do Parana
Rua General Carneiro 181
80060-900 Curitiba, PR
Brazil

FAX 55-41-243-2450
------------------------------------------------------------
**************************************************************

I am looking for information on Byler Disease (Liver disease).
I am seaching for this information because my niece(only 15 months old)
has it.  Who can tell me more about the treatment,
what can solve the itching and her lack of hunger?
I thank you in advance!!

 PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK
HUM-MOLGEN@NIC.SURFNET.NL

Apparent patient location: Belgium

**************************************************************

I am the mother of a 3 yr old boy with a 6p deletion (6p24 to 6p ter). The
children who have this deletion may present as possibly having Aarskogg
Syndrome (boys) or Turner Syndrome (girls), but the children have Deafness
too. I would like to share and exchange information with researchers and
other families about this very rare syndrome. I do have contact with 5
families that have living children with either 6p24- or 6p25- but not with
both bands deleted like my son.

 PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK
HUM-MOLGEN@NIC.SURFNET.NL

Apparent patient location: USA  (VA)

**************************************************************

I am the parent of a 10 year old female who was diagnosed with Wolfram's
syndrome about 4
years ago. I would like to know if there are support groups of parents. I
need to make some
educational decisions for my daughter and I need some help!



 PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK
HUM-MOLGEN@NIC.SURFNET.NL

Apparent patient location: USA  (CA)


**************************************************************

Dear Colleague:

        We are studying the natural history and molecular biology of a rare
bone dysplasia and are seeking additional patients and their families.
3Hereditary bone dysplasia with malignant changes2, is an autosomal dominant
(McKusick9s Mendelian Inheritance in Man #112250), bone disorder
characterized by diaphyseal medullary stenosis, necrosis, and infarctions
with overlying cortical thickening of the long bones.  The disease typically
manifests itself in the form of pathologic fractures secondary to minimal
trauma with subsequent poor healing or non-union of the fracture and a
predisposition to the formation of a highly malignant fibrous histiocytoma /
fibrosarcoma in an infarcted lesion in the second to fifth decades of life
(Ann Int Med 78:902; and, J Bone & Joint Surgery.  68A:1079, 1986). We have
recently identified the fourth known family with this rare dysplasia and
described a more tumor-sensitive screening agent (Ped Radiol 26:675, 1996).
        The Department of Human Genetics at the Mount Sinai School of
Medicine offers expertise in the application of molecular, biochemical,
cytogenetic, and somatic cell approaches for the study of genetic diseases
and outstanding clinical services dedicated to the care of affected
individuals and their families.  Our laboratory has most recently mapped and
identified the pycnodysostosis gene (Nat Genet 10:235, 1995; Science
273:1236, 1996, respectively) and has also refined the critical region for
cleidocranial dysplasia (Am J Med Genet. 58:200, 1995).
        In collaboration with the original investigators, who provided the
earliest clinical descriptions of 3hereditary bone dysplasia2, we have
initiated a positional cloning project to identify the causative disease
gene.  Additionally, we are defining the natural history and phenotypic
variability of this disorder. We are actively searching for additional
patients and their families to facilitate these studies.  If you are aware
of any patients who might be willing to participate, kindly contact us by
telephone (212)241-6947, fax (212)360-1809 or e-mail (jam@msvax.mssm.edu).
All research will be performed under IRB approval and all samples will be
effectively protected against identification of the patient/donor.
Thank you in advance for your kind cooperation in this matter.
Sincerely yours,

John A. Martignetti  M.D., Ph.D.
Departments of Human Genetics and Pediatrics
Mount Sinai School of Medicine
          Department of Human Genetics
                        New York, N.Y. 10029
jam@msvax.mssm.edu

**************************************************************
DEAR SIRS,
I AM  IN NEED OF ALL THE RESEARCH DATA CONCERNING
(PONTONEOCEREBELLAR OR OLIVOPONTONEOCEREBELLAR HYPOPLASIA)
I have a 40 day old, male, 37wk, 2.34kg at birth,child. MRI shows brain
abnormalities. poor
but stabil Resp.
I think it is pontoncerebellar hypoplasia but can find little info in MED.LIB..
Also who and where are the experts on this disease.
thanks


 PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK
HUM-MOLGEN@NIC.SURFNET.NL

Apparent patient location: USA
**************************************************************

Dear colleagues,

I'm  working on a linkage study of ACC (aplasia cutis congenita), congenital
skin absence on the head, and found a possible disease locus in one large
family.  Does anybody know of other families with ACC?
I would greatly appreciate your collaboration or any information and help you
could give me.

                                            Shoji Watanabe, M.D. Ph.D.
                                            Research Fellow
                                            Harvard Medical School
                                            Dept. of Cell Biol.
                                            240 Longwood Ave.
                                            Boston, MA  02115
                                            Tel; 617-432-2088
                                            Fax; 617-432-0638
                                            e-mail;
                                            swatanab@warren.med.harvard.edu
**************************************************************


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