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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 9 prof. requests  

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Subject: DIAG: 9 prof. requests
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@istitutotumori.mi.it>
Date: Mon, 12 Jul 1999 14:33:59 +0200
Posted-Date: Mon, 12 Jul 1999 14:33:59 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  9  professional requests:

1)      Familial glomus tumors
2)      Familial diabetes insipidus
3)      Family with porphyria
4)      46,XX,del(7)(pter->q22.3::q31.1->qter)
5)      Bartter syndrome
6)      Allgrove Syndrome
7)      Marfan syndrome
8)      CADASIL
9)      Familial psoriasis


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

1)      Familial glomus tumors

We have recently mapped the chromosomal region co-segregating with
inherited "glomus tumors" ("glomangiomas" or venous malformations with
"glomus cells";  OMIM#138000 GLOMUS TUMORS, MULTIPLE) Am J Hum Genet, Boon
et al., in press. We would like to welcome new clinical/laboratory
collaborators for the purpose of identifying additional families for the
positional cloning of the mutated gene. We are also looking for additional
families for various other vascular anomalies, especially for inherited
venous malformations, for which we have previously identified the causative
gene, TIE-2 (Vikkula et al., Cell 1996; 87:1181-1190).

If you have seen/ know of any such families, please do not hesitate to
contact us. Written informed consent is needed for each participant and all
our studies have been approved by the ethical review board of the Faculty
of Medicine of our university.

Looking forward to fruitful collaborations.


Miikka Vikkula, M.D., Ph.D.
Associate Member

Laboratory of Human Molecular Genetics
Christian de Duve Institute &
Université catholique de Louvain
Avenue Hippocrate 75+4, bp. 75.39

phone/secretary + 32-2-764 7539
phone/office:   + 32-2-764 6530
phone/lab:      + 32-2-764 6531
fax:            + 32-2-764 7548 or 7598
e-mail:         vikkula@bchm.ucl.ac.be
web:            http://www.icp.ucl.ac.be/vikkula


2)      Familial diabetes insipidus

We have a family with 4 affected individuals over three generations with
diabetes insipidus.  There are 2 in the middle generation - sisters. Our
patient is a 2 year old girl, born to one of the sisters.  Then their father
also was affected (but we do not have his records).
Is any one interested in studying this family's DNA?


Tony Perszyk

Anthony Perszyk MD
Division of Medical Genetics
Nemours Children's Clinic
Jacksonville, Florida USA 32207-8426

TEL#  1-904-390-3726
FAX#  1-904-390-3422
aperszyk@nemours.org <mailto:Aperszyk@nemours.org>
3)      Family with porphyria

I have a family in my practice with a suspected diagnosis of variegate
porphyria.  The proband has a history of unexplained abdominal pain and mild
photosensitivity.  During a mild attake urinary PBG was mildly elevated.
Her Uro-I-Synthetase levels were normal.  Her fecal stool porphyrins were
normal (collected once, when she was feeling well).  Hereditary
coproporhyria is also in our differential.

This woman's mother has a history of cutaneous photosensitivity and
intolerance of hormone replacement.  There are three cousins (two are sibs
of each other, and the third is a different uncle's son) who have been
diagnosed with inflammatory bowel disease.

Is there anyone who is doing any DNA studies on Variegate Porphyria?  Any
suggestions re: a work-up for this woman?

Lea Velsher, MD
Lakeridge Health Oshawa
1 Hospital Court
Oshawa, Ontario, Canada
L1G 2B9
e-mail: lvelsher@idirect.com
fax: (905) 721-4757


4)      46,XX,del(7)(pter->q22.3::q31.1->qter)

I've had a request for information of similar cases from a mother of a 3
year old girl with karyotype : 46,XX,del(7)(pter->q22.3::q31.1->qter) de
novo. This mother seeks addresses of families or support groups of rare
chromosome abnormalities, in the hope that families with children with
similar deletion breakpoints might be able to communicate.

Many thanks from:

Kerry Fagan ,
Chief Cytogeneticist
HAPS,   Newcastle Mater Hospital
Waratah   NSW   2398  AUSTRALIA
tel: +61 249 211246        fax: +61 249 211248
email:    kfagan@hunterlink.net.au

5)      Bartter syndrome

Dear Colleagues -

Our patient is a 9 year old male with a previous history of severe
prematurity at 28 weeks.  Birth weight less than 900 grams. Polyhydramnios
and cocaine positive urine.  Major alcohol usage and obvious features of
fetal alcohol syndrome.  Mild cerebral palsy secondary to IVH. Mild mental

Hypokalemia was seen in the NICU initially and is persisting to this day.
Renal function has dropped to ~30% of normal.  Mild proteinuria is also
present.  Severe growth delay has been treated with growth hormone
replacement for 3 years.  Ht and wt are both below the 5%ile.  He is about
the size and weight of a 6 year old.  He is on potassium replacement and
Rocaltrol.  He has not had renal calculi.  Urine shows calcium to be low.

Labs :
Serum calcium runs high normal on treatment. Highest is 10.9mg/dl
Both cholesterol and triglycerides run in mildly elevated ranges - 194 and
273, respectively.
Urine Amino acids show increased amounts of threonine, citrulline, cystine,
and alanine.
Platelets run in the 400 to 500 hundreds.
Mild normo-cytic anemia is noted.
Alk phos is always around 400 (twice normal)
Currently the BUN is 27

Is there anyone interested in testing him for true hypokalemic alkalosis
with hypercalciuria (Bartter syndrome)?   As well as other known genetic
defects of potassium regulation. ?Gitelman Na-K-2Cl cotransporter gene
and/or ROMK potassium channel?  Etc?

He has been reviewed by three renal experts. There is no consensus about his
diagnosis.  The adoptive family wishes to know if he is or is not a
candidate for transplant (if things get to that point).  Perhaps gene tests
might sort out some of this.  Suggestions?

Thank you.

Tony P.

Anthony Perszyk MD
Division of Medical Genetics
Nemours Children's Clinic
Jacksonville, Florida USA 32207

TEL#  1-904-390-3726
FAX#  1-904-390-3422

6)      Allgrove Syndrome

I,m a psychologist.  Recentlly I saw a 6 years old boy with Allgrove
Syndrome.  This is the first time I have hear of this condition and I don't
have any information about sintoms, prognosis, treatment, etc.  I would
appreciate any information you can send me.

Mayra R. Seda Toro, MA
ClĢnica de EvaluaciŪn y
Servicios de Apoyo Multidisciplinario
Tous Soto # 205
Urb. Baldrich
Hato Rey, PR 00936


7)      Marfan syndrome

We are doing a research on National Center of Medical Genetic of Cuba
about Marfan Syndrome, based on clinical criteria. We have a patient with
clinical phenotype in cardiovascular, skeletal, and ocular system,
but he also had hight levels of calcium in urine, osteoporosis, renal
litiasis and we suspected a renal aciduria.
We need to get in touch with some Doctors who had similar experience.

                                    Sincerely your.
MD.Phd.Aracely Lantigua.
National Center of Medical Genetic.


- Is anyone doing direct sequencing for the notch3 gene? Any special
requirements for the sample? We have examined 3 different families with 6
individuals presenting with the typical CADASIL phenotype and positive
family history. We have also done the autopsy in one individual.

- Is there an antibody available against the granular osmiophilic material
found in the vascular smooth muscle cells?

We would appreciate any input regarding these issues.
Thank you.

Alfredo Lopez-Yunez, MD
Engin Yilmaz, MD, PhD

Department of Neurology
Indiana University
545 Barnhill Dr #125
Indianapolis, IN 46202


9)      Familial psoriasis

We have recently identified a large kindred where psoriasis seems to be
dominantly inherited. We are looking to collaborate on this family with a
group actively involved in psoriasis genetics.

We think the family may allow for the identification/confirmation of
psoriasis linked genetics loci.
As the genetics of psoriasis is not one of our research foci, we would be
happy to share this material with a group interested in it.

Thank you.

Maurice van Steensel, MD
Dept. of Dermatology
University Hospital Nijmegen
PO Box 9101
6500 HB
The Netherlands
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