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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 11 messages  

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Subject: DIAG: 11 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@istitutotumori.mi.it>
Date: Thu, 10 Jun 1999 08:36:30 +0200
Posted-Date: Thu, 10 Jun 1999 08:36:30 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  11  professional requests:

1)      Cystic Fibrosis  mutation, D1152H
2)      Setleis Syndrome
3)      Geleophysic Dysplasia 
4)      Marfan syndrome - growth charts
5)      Rothmund-Thomson Syndrome
6)      Black tailed prairie dog, Cynomys ludovicianus, karyotype
7)      NF2 patients
8)      Protein C deficiency.
9)      Prostate Cancer family
10)     Dysplasia spondylo-epiphysaria congenita
11)     Availability of DNA samples for anonymized research


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

1)      Cystic Fibrosis  mutation, D1152H

 We are seeking collaborators to participate in a genotype-phenotype
study of the CFTR exon 18 missense mutation, D1152H.  This mutation was
first identified at the University of North Carolina at Chapel Hill and
was presented as a Hot Science poster at the 1992 North American CF
Conference (CFGAC Newsletter #49, Sept. 29, 1992). The index cases were
three siblings notable for their extremely mild clinical presentations
as well as their advanced age (60's to 70's).  Subsequently we have
found this mutation among numerous normal-sweat patients with very mild
lung disease of a variable nature and/or men with congenital bilateral
absence of the vas deferens (CBAVD).  It's prominent role in CBAVD was
described by poster presentations at last year's meeting in Montreal as
well as at the 1998 American Society of Human Genetics meeting in
Denver.  Additionally, recent work by Harry Cuppens has demonstrated
reduced whole cell chloride currents when a D1152H-bearing CFTR cDNA
vector is expressed in Xenopus oocytes.
 Hardly any commercial laboratories screen for D1152H, and few, if any,
academic institutions beyond UNC specifically test for this mutation.
It is likely this limited scrutiny has prevented recognition of this
mutation as having sufficient prevalence to warrant further research
and, potentially, a higher clinical profile.
 Interested laboratories who have already identified individuals with
D1152H are requested to contact us for a clinical data submission form
for each patient.  Labs who have not looked for D1152H but are
interested in testing for it may contact us for a straightforward
assay.  Once collaborators have been identified, control population
information will be sought.


Kenneth Friedman, Ph.D., primary contact
 919-966-0717 (FAX)

Lawrence M. Silverman, Ph.D.
Michael R. Knowles, M.D.
   (Dep'ts of Pathology and Medicine, University of North Carolina at
Chapel Hill, NC)
W. Edward Highsmith, Jr., Ph.D.
   (Dep't of Pathology, University of Maryland, Baltimore, MD)

2)      Setleis Syndrome

I would like to hear from anyone who has identified patients with the
Setleis Syndrome. We are currently collecting DNA samples for a future
gene mapping effort. We are specially interested in Setleis patients from
Puerto Rican extraction, but samples from patients of different ethnic extrac
tion will also be useful, especially from large affected families. Please
me for a collaboration. Thanks for your help in this matter

Carmen L. Cadilla
University of Puerto Rico
School of Medicine
Dept. of Biochemistry
PO BOX 365067
San Juan, PR  00936-5067


3)      Geleophysic Dysplasia 

I am a pediatrician taking care of two families with Geleophysic Dysplasia
syndrome (one case in each family). I received a request of genetic
analysis from both families: is anyone currently working on molecular
genetics of this syndrome or does anyone
know if such analysis is in progress?

Thank you very much in advance,

Luca Romano, MD, PhD
CF Centre
Gaslini Institute
Largo Gaslini, 5
I-16147 Genova Italy

E-mail: lromano@mclink.it


4)      Marfan syndrome - growth charts

Could you tell me where I can find on-line growth charts of males and
females with Marfan syndrome?


Dr. Victor Grech
Senior Registrar
Paediatric Dept
St. Luke's Hospital


5)      Rothmund-Thomson Syndrome

As part of a multidiscipline protocol at Baylor College of Medicine, my
colleagues and I continue to search for individuals and families with the
Rothmund-Thomson Syndrome. If you are aware of such families, please contact
me at rlewis@bcm.tmc.edu or Dr. Sharon Plon in Pediatrics-Cancer Genetics at
splon@bcm.tmc.edu.  Thank you!

Richard Alan Lewis M.D., M.S.
Professor, Departments of Ophthalmology, Medicine,
     Pediatrics, and Molecular and Human Genetics   

Cullen Eye Institute NC-206                               
Baylor College of Medicine                                
1 Baylor Plaza                                               
Houston, Texas 77030                                         

E-mail: rlewis@bcm.tmc.edu;  
Voice:  713-798-3030;  
Fax:  713-798-3042

6)      Black tailed prairie dog, Cynomys ludovicianus, karyotype

Does anyone know if  the black tailed prairie dog, Cynomys ludovicianus,
has been
karyotyped with banded chromosomes? The only report I have found in the
is pre-banding.
Hope Punnett; e-mail: punnett@auhs.edu

7)      NF2 patients

Patients With Severe Phenotype of Neurofibromatosis Type 2 (NF2) - Call For
Clinical Samples/Collaboration.

Our group is studying the genetic mechanisms that cause NF2. We are
particularly interested in the question of why the severity of NF2 varies
from person to person. Previous studies suggested that different types of
mutations in the NF2 gene itself are related to disease severity. However,
the type of germ-line mutation does not fully explain the clinical
variation of NF2 phenotype. Several independent  lines of evidence suggest
that other gene(s), as yet unknown, affect NF2 disease severity. These
genes, since they would modify NF2 disease severity, are called "modifier
gene(s)". Our hypothesis is that modifier gene(s) contribute to severe NF2,
at least in some patients.

To test this hypothesis, we need to increase the number of patients
available for the molecular genetic analysis. We would like to obtain
samples (30 ml of peripheral blood or at least 200 microgram of high
molecular weight DNA) from unrelated patients with severe or moderate NF2.
Because our hypothesis is that modifier genes affect severe NF2, patients
with mild NF2 are not included.  Mild NF2 is defined as vestibular
schwannomas only (without other tumors such as spinal/peripheral
schwannomas and meningiomas of various locations), age of onset of symptoms
over 25-30 years old, and slow tumor growth. Patients can be either
sporadic or familial NF2 patients. For familial patients, where there is
more than one patient in the family, we need a sample from only one patient
in the family.

These samples could be sent to us by Federal Express/United Parcel Service,
and we will cover the costs of shipment. However, before sending samples,
we would like to be contacted by interested scientists/clinicians. Contact
information is provided below.

Thank you in advance for your interest in our study!

Jan Dumanski, Dr.Med.Sc.
Associate Professor of Medical Molecular Genetics
Dept. of Molecular Medicine, Clinical Genetics Unit
Karolinska Hospital, CMM building L8:00,  S-17176 Stockholm, Sweden
phone: +46-8-517  72229 (office), or +46-8-517  73922 (lab)
fax: +46-8-517  73909
Email:  Jan.Dumanski@cmm.ki.se

8)      Protein C deficiency.

I am a hematologist in Seoul National University Hospital, Korea.
I am studing inherited protein C deficiency. I confirmed genetic
mutation via gene sequencing about several cases. What I want to know is
whether these cases are novel cases or not. please tell me if you know
about this. Nucleotides are numbered according to the nucleotide
numbering of Foster et al (Foster DC et al. Proc Natl Acad Sci USA 1985;
13: 5233)
case 1. exon 8, T7196C, result: TCC(Ser)CCC(Proline)
case 2. exon 8, T7242A, result: CTC(Leu)CAC(Histidine)
case 3. intron site between exon 7 and 8, CG(6290, 6291)GC

In case 3, the patient was suffered from recurrent deep vein thrombosis
at young age. His brother and sister are asymptomatic, but have lower
protein C values. So I think this family has inherited protein C
deficiency (type I).
I sequenced all genome coding protein C of case 3. I found no mutation
except this intron site mutation. I don't understand how this mutation
causes such quantitive deficiency. I guess the splicing process is not
adequate due to this mutation. If you have any idea, or know any fact,
please tell me.

I will wait your answer.
Thank you for your kindness.

Inho Kim (MD)
Seoul National University Hospital
Seoul, Korea

9)      Prostate Cancer family

We have a family with prostate cancer. 5 brothers
are affected in one generation - otherwise there appears to be no sign of
prostate cancer elsewhere in the pedigree. Can any body lend a hand in
defining the cause of this cluster. Thankyou

Dr Raymond Clarke
St George Hospital

10)     Dysplasia spondylo-epiphysaria congenita

I am a physiotherapist of a child of 1,5 years with Dysplasia
spondylo-epiphysaria congenita and I am intersted in having contact with
you and other parents or physiotherapist which have experience with this

I have some questions:
Do you have experience with Vojta-therapy or another kind of therapy of
skoliois of little children?
Which kind of therapy do you make with your child?
Can you give me other adresses of specialists of this disease?
Our doctor denies, that physiotherapy will be helpfull. He says we must wait,
and later we have to make an operation. What do you think about this?
Yours sincerely


11)     Availability of DNA samples

The National Center for Health Statistics and the National Center for
Environmental Health, two components of the U. S. Centers for Disease
Control and Prevention, announce the availability of DNA samples for
anonymized research from the Third National Health and Nutrition Examination
Survey.  A proposed application procedure and cost schedule appears for
comment in the June 1, 1999 Federal Register.  This information can be
retrieved electronically at

Audrey L. Burwell, M.S.
Health Research Administrator
Minority Health Statistics Grants Program
National Center for Health Statistics/CDC
6525 Belcrest Road, Room 1100
Hyattsville, MD  20782
Website:  http://www.cdc.gov/nchswww/about/grants/grants.htm
Phone:  (301) 436-7062, x127
FAX:      (301) 436-4233
Email:    AZB2@CDC.GOV

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