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Subject: DIAG (6 messages)
From: Robert Resta <bc928@scn.org>
Date: Mon, 27 Apr 1998 10:02:03 -0700

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 5 professional and 1 patient request:

1) Neuronpathic type III Gaucher disease
2) Spastic paraplegia
3) Carey-Finemam-Ziter syndrome
4) Renal failure and haemolytic Tja antibodies
5) Twins with Albers-Schonberg syndrome
6) Lebers Congenital Amaurosis (Patient request)

Replies to message 6 (patient request) should be sent to HUM-MOLGEN.


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

1) Neuronpathic type III Gaucher disease

We are interested in clarifying the pathogenesis of the neuronpathic type III
Gaucher disease (GD). GD is the most prevalent hereditary metabolic storage
disease, and the most common genetic idsorder in individuals of Ashkenazi
Jewish ancestry. GD transmitted in an autosomal recessive manner is  mostly
caused by a deficient activity of the enzyme glucocerebrosidase (GBA). The
clinical phenotypes are classified into three groups: non-neuronpathic (type I,
which is the most common variant with an incidence of 1 in 30.000, acute
neuronpathic (Type II) and chronic (subacute) neuronopathic (type III).
ALthough many different point mutations, some insertions, deletions and more
complex disease alleles due to recombination events with the GBA pseudogene
(GBAP) have been identified, in about 25-35% of all Caucasian GD patients the
mutation is still unknown.

To get more detailed information of the distribution and frequency of the
mutational pattern in European-non-Jewish, Caucasian GD patients we have up to
now analyzed the entire GBA coding region in 75 non-Jewish GD patients from
whom 11 suffered fom the chronic neuronpathic GD variant. The enzyme
replacement therapy which is highly effective in patients with type I has only
moderate benefit in patients with type III.

As part of our genetic research project we are lookin for further type III GD
patients which are mainly characterized by multifocal myoclonus and generalized
seizures, horizontal supranuclear gaze palsy, ataxia, spasticity and in the
most cases only moderate herpatosplenomegaly and thrombocytopenis. We have
established a sequencing procedure for the complete coding GBA as well as for
the Nimann-Pick type C- (NPC1)-gene since Niemann-Pick type C is the major
differential diagnosis of GD.

If you have patients with seizures of unclear etiology in combination with a
hepatosplenomegaly, ataxia or supranuclear gaze palsy we are offering a genetic
analysis for the GBA and NPC1 gene.

We would be grateful also for collaboration with other groups who are aware of
type III GD families.

Arndt Rolfs, M.D.
Professor for Neurology
University of Rostock
Gehlsheimerstr. 20
D-18055 Rostock
Tel.: -49-381-494-9540
FAX.: - 49-381-494-9542
email: arndt.rolfs@medizin.uni-rostock.de
2) Spastic paraplegia

We have isolated and characterized the gene involved in a new form of spastic
paraplegia and  found several mutations.  On a collaborative basis, we are
currently collecting pure and complicated spastic paraplegia families, both
recessive and dominant, as well as sporadic cases with the aim of scanning for
mutations and performing phenotype-genotype correlations.

Please contact:

Dr Giorgio Casari



3) Carey-Finemam-Ziter syndrome

We have a patient with a possible Carey-Finemam-Ziter syndrome.

At birth he had hypotonia, dysmorphic and myopathic face: hypertelorism,
epicantus, down labial comisures, Pierre Robin anomaly, bilateral VI and VII
nerve palsy. Hypoplastic right thumb without flexion crease, clinodactily
bilateral of the 2nd finger, single flexion crease in the left 5th finger and
clubbed foot. A tracheotomy was performed at 3 months. Since then he needs
mechanical ventilation.

Metabolic screening in blood and urine, muscular enzymes, biochemical,
hematopoyetic and cytogenetic studies were normal. Muscle biopsy showed minimum
and nonspecifics changes. EMG detect normal answer of limbs squeletic muscle,
and absence activity of voluntary and reflexes face musculature. Molecular
study of myotonic dystrophy was normal. MRI findings included ventricular
dilatation, light brain and brainstem atrophy.

We would like to know your opinion and extra information about the evolution of
this entity  (we have the articles: Carey et al.1982, Schimke et al.1993,
Baraitser and Reardon 1994)

allado@imsb.bcn.es (A.Lladonosa / M.Calvo)

4) Renal failure and haemolytic Tja antibodies

We need to know if somebody has experience in kidney transplant in a patient
with renal failure and haemolytic Tja antibodies positives.

Our patient is 45 years old women with chronic renal failure in
heamodyalisis for 10 years and we are interested in making she a

Dra. Ana Fernandez.

5) Twins with Albers-Schonberg syndrome:
(Apparent patient location: China)

Twin A is a 10-month-old girl admitted to a hospital on February 12,1998 for an
intermittent fever and cough for 20 days, watery diarrhea for one  week,  and
an increasing anterior frontanelle. She had poor appetite,loss of body weight,
untranquil sleep and hyperhidrosis. Vomiting and convulsions were not observed.
She can't crawl or turn over her body.  She had no history of familial
diseases. On physical examination her temperature was36.5deg.C, body weight was
7kg, development was slow, her head circumference was 44cm, anterior
frontanelle was3x3cm2 with its tension slightly higher, no occipital atrichia
and varicose scalp were found. She was found to have slight nasal obstruction
and congestion of throat with her palate arch slightly higher and normal size
of tonsil. No abnormality was found in her heart or abdomen except slight
respiratory harshness in her two lungs and liver edge was palpable 3cm below
the right costal margin and the spleen was palpable 1cm below left costal
margin.No abnormality was found in her nervous system except hypomyotonia in
her lower extremities. By MR she had slight enlargement of the lateral and 3rd
ventricles and a dysplastic, polycystic left kidney.The right kidney was normal
by MR but enlarged by ultrasound. Increased density was found in
femora, tibiae, fibula, calcaneus, and carpal bone with pachynsis of their
cortices and occlusion of their marrow cavities as well as increased
pachynsis and hardness of their cranial bones such as middle sphenoid
bone wing,sella base,dorsum sellae and both anterior and posterior
clinoid processes.These findings brought it into accord with the
manifestations of osteopetrosis.

Twin A was tentatively diagnosed as:
1. Osteopetrosis(hydrocrania,moderate anemia,slightly slow brain
   development,slow growth development)
2. Dysplasia of left kidney,renal cyst.
3. Upper respiratory tract infection.
4. Rachitis.

Twin B has a similar clinical presentation.

We would appreciate advice or assistance treating these patients. They are
financially able to travel abroad for therapy.

Unit:Pediatric Department,General Hospital of Beijing Military Command
Address:No.5 Nan Men Cang,Dongcheng District,Beijing,China(100700)
Email address:bmghplhc@public3.bta.net.cn
Tel: (010)66721629-8067(O)
Fax: (010)66721010
e-mail: jiaosc@cdm.imicams.ac.cn
Contact:Professor Liu Ke.

6) Lebers Congenital Amaurosis
        Patient request - please reply to HUM-MOLGEN

I am the mother of an 11 month old baby daughter who has been diagnosed with
the genetic disorder Lebers Congenital Amaurosis.

I am searching for information regarding the current genetic research being
conducted into this disorder and would be very grateful for any information or

Thank you.

HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail:
HUM-MOLGEN@nic.surfnet.nl WWW:
http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The
Netherlands), (206) 386-2101 (USA) Fax:  020-691 6521 (The Netherlands),
(206) 386-2555 (USA)
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