Hutchinson-Gilford progeria syndrome in a 45-year-old man

Ogihara, Toshio; Hata, Takeshi; Tanaka, Kiyoji; Fukuchi, Ken-ichiro; Tabuchi, Yoshikatsu; Kumahara, Yuichi

doi:10.1016/0002-9343(86)90196-8

Cited by 28 publications

(15 citation statements)

References 9 publications

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“…In most reported cases, death has occurred between the ages of 7 and 27 years, with an average life expectancy of 13 years (5). The oldest known patient lived 45 years (29). Death usually results from myocardial infarctions or congestive heart failure (30).…”

Section: Discussionmentioning

confidence: 99%

Progeria Infantum (Hutchinson–Gilford Syndrome) Associated with Scleroderma‐Like Lesions and Acro‐Osteolysis: A Case Report and Brief Review of the Literature

Jansen

Romiti

2000

Pediatric Dermatology

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Progeria infantum (Hutchinson-Gilford syndrome) is a very rare syndrome of premature aging characterized by growth retardation and specific, progressive, premature senescent changes of the skin and other tissues. We report a 1.5-year-old girl with loss of scalp hair, eyebrows, and lashes, prominent scalp veins, micrognathia, abnormal ears, loss of subcutaneous tissue, and scleroderma-like areas over the trunk. Radiographic studies revealed coxa valga and acro-osteolysis of the terminal phalanges. The clinical and radiologic features corresponded well with progeria infantum.

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Section: Discussionmentioning

confidence: 99%

Progeria Infantum (Hutchinson–Gilford Syndrome) Associated with Scleroderma‐Like Lesions and Acro‐Osteolysis: A Case Report and Brief Review of the Literature

Jansen

Romiti

2000

Pediatric Dermatology

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“…A Japanese patient with HGPS was previously described elsewhere. 4 Lymphoblastoid cell lines (LCLs) were established from peripheral blood samples from the patient and healthy control subjects using Epstein-Barr virus. LCLs were used to prepare protein, RNA, and genomic DNA.…”

Section: Subjects and Sample Preparationmentioning

confidence: 99%

“…We previously reported an extraordinarily long-lived patient with HGPS who survived to age 45. 4 At birth he appeared normal and his large head was noted at 1 year. Growth retardation was first noticed at the age of 12.…”

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confidence: 99%

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome

Fukuchi

Katsuya

Sugimoto

et al. 2004

Journal of Medical Genetics

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“…In addition, it appears that HGPS can be caused not only by accumulation of progerin, but also other progerin-like proteins. In exon 11, there is yet another alternative cryptic splice site, downstream of the HGPS site, which is partially activated by a downstream C to G conversion (c.1868C>G)64 65 causing a 105 base deletion (r.1864_1968del) that completely overlaps with the HGPS deletion and a truncated lamin A isoform similar to progerin. The patient with accumulation of this progerin-like isoform presented with a characteristic but milder HGPS phenotype 65.…”

Section: Aberrant Splicing Caused By Mutations In Lmnamentioning

confidence: 99%

“…In exon 11, there is yet another alternative cryptic splice site, downstream of the HGPS site, which is partially activated by a downstream C to G conversion (c.1868C>G)64 65 causing a 105 base deletion (r.1864_1968del) that completely overlaps with the HGPS deletion and a truncated lamin A isoform similar to progerin. The patient with accumulation of this progerin-like isoform presented with a characteristic but milder HGPS phenotype 65. It is of interest that the same heterozygous c.1968+1G>A mutation that activates the HGPS alternative splicing in the family reported by Moulson et al 60 was found to cause exon 11 skipping and a fatal restrictive dermopathy phenotype in another study 66.…”

Section: Aberrant Splicing Caused By Mutations In Lmnamentioning

confidence: 99%

Normal and aberrant splicing ofLMNA

2014

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The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5' and 3' untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuclear lamina and have diverse physiological roles, ranging from mechanical nuclear membrane maintenance to gene regulation. The clinical spectrum of diseases (called 'laminopathies') caused by LMNA mutations is broad, including at least eight well-characterised phenotypes, some of which are confined to the skeletal muscles or skin, while others are multisystemic. This review discusses the different alternatively spliced isoforms of LMNA and the regulation of LMNA splicing, as well as the subgroup of mutations that affect splicing of LMNA pre-mRNA, and also seeks to bridge the mis-splicing of LMNA at transcript level and the resulting clinical phenotypes. Finally, we discuss the manipulation of LMNA splicing by splice-switching antisense oligonucleotides and its therapeutic potential for the treatment of some laminopathies.

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Hutchinson-Gilford progeria syndrome in a 45-year-old man

Cited by 28 publications

References 9 publications

Progeria Infantum (Hutchinson–Gilford Syndrome) Associated with Scleroderma‐Like Lesions and Acro‐Osteolysis: A Case Report and Brief Review of the Literature

Progeria Infantum (Hutchinson–Gilford Syndrome) Associated with Scleroderma‐Like Lesions and Acro‐Osteolysis: A Case Report and Brief Review of the Literature

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome

Normal and aberrant splicing ofLMNA

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