Progeria

[Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>]

Note from the DIAGNOSTIC/CLINICAL RESEARCH editor:

This DIAG message contains 2 submessages (Originally sent on may
3 to dr. Caballos, but without confirmation of receipt)

1)  Progeria marker

2)  Progeria





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 2 May 1995 08:32:21 -0400
Date: Tue, 02 May 1995 08:32:21 -0400
From: Steve Krawetz <steve@COMPBIO3.MED.WAYNE.EDU>
Subject: RE: DIAG:
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We have a new marker that may be associated with Progeria.
The transcript it detects is upregulated 1000 fold in
progeria cells.  It also appears unique to progeria cells.
Let me know if you are interested.

Yours sincerely,


Stephen A. Krawetz,
Associate Professor
Ob/GYN center for Molecular Medicine & Genetics



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I attempted to send this mail direct to Dr Caballos, but it
bounced
(unknown host). I hope that by replying to the list it might get
through.

Sorry to send this to everyone...

Chris

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Christopher J Porter                                Phone: +1
(410) 614-1851
Data Acquisition and Curation                         Fax: +1
(410) 614-0434
Genome Data Base                                      Email:
cporter@gdb.org

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Subject: OMIM -- 176670  Progeria
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http://gdbwww.gdb.org/omim/omimx?176670

Dear Dr Caballos,

In response to your recent request on the HUM-MOLGEN mailing
list, here is the
information on Progeria taken from OMIM (Online Mendelian
Inheritance in Man).
If you have a World Wide web browser (Mosaic, Netscape etc.) OMIM
can be
searched on the at the URL:

http://gdbwww.gdb.org/

I hope that this information proves useful.

Sincerely,

Chris Porter
______________________________________________________________
______________
Christopher J Porter                                Phone: +1
(410) 614-1851
Data Acquisition and Curation                         Fax: +1
(410) 614-0434
Genome Data Base                                      Email:
cporter@gdb.org

       *** The GDB Browser on the WWW *** http://gdbwww.gdb.org/
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176670 PROGERIA [HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS]

TABLE OF CONTENTS

   * Text
   * References
   * Clinical Synopsis
   * Oldno
   * Edit History

TEXT

Precocious senility of striking degree is characteristic of this
exceedingly
rare disorder. Death from coronary artery disease is frequent and
may occur
before 10 years of age. Hastings Gilford (1904) gave the name
progeria to
this disorder in an article in which he also assigned the term
ateleiosis to
a pituitary growth hormone deficiency (262400). He provided no
photographs
of progeria and indicated that 'only two well-marked instances
have so far
been recorded.' Death from angina pectoris at age 18 years was
noted.
Jonathan Hutchinson (1886) had previously written about the
disorder
(McKusick, 1952). Ogihara et al. (1986) described a Japanese
patient with
progeria who survived to age 45, dying of myocardial infarction.
Clinically,
he seemed typical except for the unusually long survival.
According to
reviews of the literature, the age at death ranges from 7 to 27.5
years,
with a median age of 13.4 years. Dyck et al. (1987) reported
coronary artery
bypass surgery and percutaneous transluminal angioplasty in a
14-year-old
girl with this disorder.

Recessive inheritance was suggested by the report from Egypt of
affected
sisters, children of first cousins (Gabr et al., 1960). Paterson
(1922)
recorded the cases of 2 possibly affected brothers; photographs
were not
published and the diagnosis is not completely certain. The full
report was
simply the following: 'A boy, aged 8 years. Condition has been
present since
birth. The father and mother are first cousins. There are 4
children in the
family; the girls are unaffected, both boys are affected. The
senile
condition of the skin and facies should be noted. The vessels
show
arteriosclerosis. (There is almost complete absence of
subcutaneous fat.)'
Erecinski et al. (1961) described photographically typical
progeria in 2
brothers, and, among the 9 offspring of 2 sisters, Rava (1967)
found 6
affected. Khalifa (1989) described a consanguineous Libyan family
in which 2
males and 1 female in 2 sibships related as cousins had seemingly
typical
Hutchinson-Gilford progeria. Repeated nonhealing fractures were
the
presenting manifestation in the proband. Maciel (1988) reported
an inbred
Brazilian family in which presumed Hutchinson-Gilford progeria
had occurred
in members of 2 sibships related as first cousins once removed.
Although
autosomal recessive inheritance was unmistakable, it was by no
means certain
that this involved true progeria. The 2 brothers reported as
having progeria
by Parkash et al. (1990) probably had mandibuloacral dysplasia
(248370).
DeBusk (1972) maintained that of 19 cases reported to that date
in which
consanguinity was sought, in only 3 were the parents related.
Conceivably
progeria is a dominant and the rare instances of affected sibs
are the
result of germinal mosaicism. Fatunde et al. (1990) described a
family in
which 3 of 6 sibs had progeria. A seventh sib, who had died
before the time
of study, may have been affected. DeBusk (1972) and Jones et al.
(1975)
reported a paternal age effect, supporting autosomal dominant
inheritance.
In 20 cases in which parental age was known, the mean paternal
and maternal
ages were 35.6 and 28.8 years, respectively, and the median ages
31 and 28,
respectively. In 7 U.S. cases, the mean paternal age was 37.1.
Brown (1979)
favored autosomal dominant inheritance (most cases resulting from
new
mutation) because of the paternal age effect, the low frequency
of parental
consanguinity, and the report of progeric monozygotic twins with
14 normal
sibs.

Ayres and Mihan (1974) suggested that a fault in vitamin E
metabolism may be
at the root of progeria and recommended vitamin E therapy for its
antioxidant effect. In cultured skin fibroblasts of patients with
progeria,
Goldstein and Moerman (1978) demonstrated an increased fraction
of
heat-labile enzymes and other altered proteins. Freshly obtained
cells,
namely, erythrocytes, showed similar heat-lability of G6PD and
6-phosphogluconate dehydrogenases in a girl with progeria. Both
parents
showed intermediate values, consistent with recessive
inheritance. The
primary source of the multiple protein defects is unknown. Normal
HLA
antigens were found by Brown et al. (1980).

Brown et al. (1990) described identical twins with progeria who
developed
heart failure at the age of 8 and died within 1 month of each
other.
Cytogenetic analysis showed an inverted insertion in the long arm
of
chromosome 1 in 70% of cells. Brown et al. (1990) suggested that
a gene for
progeria may be located on chromosome 1. Evidence for possible
bioinactive
growth hormone was presented with a suggestion of treatment of
progeria with
growth hormone.

REFERENCES

Ayres, S. C. and Mihan, R.:
     Progeria: a possible therapeutic approach. J.A.M.A. 227:
1381-1382,
     1974. (Letter)

Brown, W. T.:
     Human mutations affecting aging--a review. Mech. Aging Dev.
9: 325-336,
     1979.

Brown, W. T.; Abdenur, J.; Goonewardena, P.; Alemzadeh, R.;
Smith, M.;
Friedman, S.; Cervantes, C.; Bandyopadhyay, S.; Zaslav, A.;
Kunaporn, S.;
Serotkin, A. and Lifshitz, F.:
     Hutchinson-Gilford progeria syndrome: clinical, chromosomal
and
     metabolic abnormalities. Am. J. Hum. Genet. 47 (suppl.): A50
only,
     1990. (Abstract)

Brown, W. T. and Darlington, G. J.:
     Thermolabile enzymes in progeria and Werner syndrome:
evidence contrary
     to the protein error hypothesis. Am. J. Hum. Genet. 32:
614-619, 1980.

Brown, W. T.; Darlington, G. J.; Arnold, A. and Fotino, M.:
     Detection of HLA antigens on progeria syndrome fibroblasts.
Clin.
     Genet. 17: 213-219, 1980.

DeBusk, F. L.:
     The Hutchinson-Gilford progeria syndrome. J. Pediat. 80:
697-724, 1972.

Dyck, J. D.; David, T. E.; Burke, B.; Webb, G. D.; Henderson, M.
A. and
Fowler, R. S.:
     Management of coronary artery disease in Hutchinson-Gilford
syndrome.
     J. Pediat. 111: 407-410, 1987.

Erecinski, K.; Bittel-Dobrzynska, N. and Mostowiec, S.:
     Zespol progerii u dwoch braci. Pol. Tyg. Lek. 16: 806-809,
1961.

Fatunde, O. J.; Benka-Coker, L. B. O. and Scott-Emuakpor, A. B.:
     Familial occurrence of progeria (Hutchinson-Gilford progeria
syndrome).
     Am. J. Hum. Genet. 47 (suppl.): A55 only, 1990. (Abstract)

Gabr, M.; Hashem, N.; Hashem, M.; Fahmi, A. and Safouh, M.:
     Progeria, a pathologic study. J. Pediat. 57: 70-77, 1960.

Gilford, H.:
     Ateleiosis and progeria: continuous youth and premature old
age. Brit.
     Med. J. 2: 914-918, 1904.

Goldstein, S. and Moerman, E. J.:
     Heat-labile enzymes in skin fibroblasts from subjects with
progeria.
     New Eng. J. Med. 292: 1305-1309, 1975.

Goldstein, S. and Moerman, E. J.:
     Heat-labile enzymes in circulating erythrocytes of a
progeria family.
     Am. J. Hum. Genet. 30: 167-173, 1978.

Harley, C. B.; Goldstein, S.; Posner, B. I. and Guyda, H.:
     Decreased sensitivity of old and progeric human fibroblasts
to a
     preparation of factors with insulinlike activity. J. Clin.
Invest. 68:
     988-994, 1981.

Hutchinson, J.:
     Case of congenital absence of hair, with atrophic condition
of the skin
     and its appendages, in a boy whose mother had been almost
wholly bald
     from alopecia areata from the age of six. Lancet I: 923
only, 1886.

Jones, K. L.; Smith, D. W.; Harvey, M. A. S.; Hall, B. D. and
Quan, L.:
     Older paternal age and fresh gene mutation: data on
additional
     disorders. J. Pediat. 86: 84-88, 1975.

Khalifa, M. M.:
     Hutchinson-Gilford progeria syndrome: report of a Libyan
family and
     evidence of autosomal recessive inheritance. Clin. Genet.
35: 125-132,
     1989.

Maciel, A. T.:
     Evidence for autosomal recessive inheritance of progeria
(Hutchinson
     Gilford). Am. J. Med. Genet. 31: 483-487, 1988.

McKusick, V. A.:
     The clinical observations of Jonathan Hutchinson. Am. J.
Syph. 36:
     101-126, 1952.

Ogihara, T.; Hata, T.; Tanaka, K.; Fukuchi, K.; Tabuchi, Y. and
Kumahara,
Y.:
     Hutchinson-Gilford progeria syndrome in a 45-year-old man.
Am. J. Med.
     81: 135-138, 1986.

Parkash, H.; Sidhu, S. S.; Raghavan, R. and Deshmukh, R. N.:
     Hutchinson-Gilford progeria: familial occurrence. Am. J.
Med. Genet.
     36: 431-433, 1990.

Paterson, D.:
     Case of progeria. Proc. Roy. Soc. Med. 16: 42 only, 1922.

Rautenstrauch, T.; Snigula, F.; Krieg, T.; Gay, S. and Muller,
P. K.:
     Progeria: a cell culture study and clinical report of a
familial
     incidence. Europ. J. Pediat. 124: 101-112, 1977.

Rava, G.:
     Su un nucleo familiare di progeria. Minerva Med. 58:
1502-1509, 1967.

Viegas, J.; Souza, P. L. R. and Salzano, F. M.:
     Progeria in twins. J. Med. Genet. 11: 384-386, 1974.

CLINICAL SYNOPSIS

Growth:
        o Short stature.
Skin:
        o Alopecia.
Facies:
        o Facial hypoplasia.
        o Micrognathia.
Cardiac:
        o Premature arteriosclerosis.
        o Premature coronary artery disease.
        o Angina pectoris.
        o Myocardial infarction.
        o Congestive heart failure.
Endocrine:
        o Absence of subcutaneous fat.
Skel:
        o Repeated nonhealing fractures.
Misc:
        o Premature aging.
        o Paternal age effect.
Inheritance:
        o Probably autosomal dominant with rare instances of
affected sibs
          due to germinal mosaicism.

OLDNO

17667

EDIT HISTORY

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