Progeria in siblings

Franklyn, P.P.

doi:10.1016/s0009-9260(76)80082-7

Cited by 15 publications

(10 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Associated diseases Generalized arteriosclerotic changes Widespread atherosclerosis -interstitial fibrosis of heart Dermal hyaline fibrosis Data from Badame [1989]; Beauregard and Gilchrest [1987]; Brown et al [1985]; DcBusk [1972]; Franklyn [1976]: Khalifa [1989]; Gabr et al [I960]; Tollefsbol and Gracy [1983]; Schneider and Bynum [1983], and Brown [1979]. Martin [1978]; Brown et al [1985]; Franklyn [1976], and Khalifa [1989], cade and death occurs in the 5th decade often due to atherosclerotic complications.…”

Section: Skeletal Manifestations Thin Cranial Bones With Fontanelles mentioning

confidence: 99%

See 1 more Smart Citation

Does Progeria Provide the Best Model of Accelerated Ageing in Humans?

Mills

Weiss²

1990

Gerontology

View full text Add to dashboard Cite

Studies of the causes of ageing are often obscured by the complexity of this phenomenon, hindering investigations in this area. In particular, the variable characteristics of ageing complicate analysis at a molecular level. It is proposed that to gain insight into ageing, the problem must first be simplified by restricting studies to an aspect of the ageing processes. It is suggested that progeria, which presents a less complicated etiology and phenotype than other accelerated ageing diseases, allows research to focus on a regulation site involved in development and ageing.

show abstract

Section: Skeletal Manifestations Thin Cranial Bones With Fontanelles mentioning

confidence: 99%

“…Martin [1978]; Brown et al [1985]; Franklyn [1976], and Khalifa [1989], cade and death occurs in the 5th decade often due to atherosclerotic complications.…”

Section: Skeletal Manifestations Thin Cranial Bones With Fontanelles mentioning

confidence: 99%

Does Progeria Provide the Best Model of Accelerated Ageing in Humans?

Mills

Weiss²

1990

Gerontology

View full text Add to dashboard Cite

show abstract

“…However, some reports have described the occurrence of siblings with the disorder suggesting an autosomal recessive trait in these cases [Franklyn, 1976;Monu et al, 1990], and a homozygous LMNA mutation (c.1626G4C, p.K542N) was recently described to cause an autosomal recessive variant of HGPS [Plasilova et al, 2004].…”

Section: Introductionmentioning

confidence: 99%

A homozygousZMPSTE24null mutation in combination with a heterozygous mutation in theLMNAgene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

et al. 2006

View full text Add to dashboard Cite

Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A. A functional knockout of one of the enzymes involved in prelamin A processing, the zinc metalloprotease ZMPSTE24, causes an even more severe disorder with early neonatal death described as restrictive dermatopathy (RD). This work describes a HGPS patient with a combined defect of a homozygous loss-of-function mutation in the ZMPSTE24 gene and a heterozygous mutation in the LMNA gene that results in a C-terminal elongation of the final lamin A. Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype. The mutations of our patient indicate that farnesylated prelamin A is the deleterious agent leading to the HGPS phenotype, which gives further insights into the pathophysiology of the disorder.

show abstract

“…Scleroderma‐like skin changes both in Werner syndrome and Hutchinson–Gilford syndrome have been emphasised by various authors (6,18,19). Indeed, in the original paper by Otto Werner, the skin lesions were described as ‘scleroderma‐like’ (20).…”

Section: Discussionmentioning

confidence: 99%

A case of mandibuloacral dysplasia presenting with features of scleroderma

Çefle

2004

International Journal of Clinical Practice

View full text Add to dashboard Cite

Juvenile scleroderma, a relatively rare condition, may be confused with a number of progeroid syndromes like Hutchinson-Gilford syndrome, Werner syndrome and Rothmund-Thomson syndrome. In this case report, we describe a 9-year-old boy who presented with sclerodactyly, acroosteolysis and scleroderma-like involvement of the skin over hands and feet, which suggested a diagnosis of juvenile scleroderma initially. However, absence of Raynaud's phenomenon, sparing of the skin other than hands and feet and negative serological studies did not support this diagnosis. On the basis of additional findings (micrognathia, dental malformation, a 'beaked nose', open cranial sutures and sparse hair), the patient was diagnosed as mandibuloacral dysplasia, a rare autosomal recessive disease. This case demonstrates that mandibuloacral dysplasia should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and micrognathia.

show abstract

Progeria in siblings

Cited by 15 publications

References 15 publications

Does Progeria Provide the Best Model of Accelerated Ageing in Humans?

Does Progeria Provide the Best Model of Accelerated Ageing in Humans?

A homozygousZMPSTE24null mutation in combination with a heterozygous mutation in theLMNAgene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

A case of mandibuloacral dysplasia presenting with features of scleroderma

Contact Info

Product

Resources

About