The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3

Dietz, Harry C.; Pyeritz, Reed E.; Hall, Bryan D.; Cadle, Ronald G.; Hamosh, Ada; Schwartz, Jill F.; Meyers, Deborah A.; Francomano, Clair A.

doi:10.1016/0888-7543(91)90264-f

Cited by 176 publications

(61 citation statements)

References 20 publications

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“…Marfan syndrome is an autosomal dominant disease of connective tissue principally involving the skeletal, ocular systems and cardiovascular malformation whose manifestations include mitral valve prolapse and regurgitation, presenting in infancy in the most severe cases, and progressive aneurismal dilation of the aortic root with the potential for catastrophic aortic dissection and rupture. Marfan syndrome was first mapped to chromosome 15 using traditional genetic linkage analysis (Dietz et al, 1991). Other studies have revealed that fibrillin has a regulatory role in TGF-signaling, and dysregulation of the pathway may instead underlie Marfan pathogenesis (Neptune et al, 2003).…”

Section: Single Gene Disordermentioning

confidence: 99%

Epidemiology and Etiology of Congenital Heart Diseases

Sayasathid¹,

Sukonpan²,

Somboonna³

2012

Congenital Heart Disease - Selected Aspects

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Section: Single Gene Disordermentioning

confidence: 99%

Epidemiology and Etiology of Congenital Heart Diseases

Sayasathid¹,

Sukonpan²,

Somboonna³

2012

Congenital Heart Disease - Selected Aspects

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“…The disease primarily affects the cardiovascular, skeletal and ocular systems, with skin, fascia, lung and adipose tissue occasionally involved (21). Diet et al (22) indicated that MFS was associated with the genetic defects in the chromosome loci D 15 S 25 and D 15 S 1 . The …”

Section: Discussionmentioning

confidence: 99%

Periosteal osteosarcoma and Marfan's syndrome: A case report and literature review

et al. 2015

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Abstract. Periosteal osteosarcoma (POS) is a rare primary malignant bone tumor arising from the surface of long bones. In addition, Marfan's syndrome (MFS) is an infrequent hereditary autosomal dominant connective tissue disorder with high penetrance and variable phenotypes, which primarily affects the ocular, skeletal and cardiovascular systems. The present study reported a case of POS and MFS co-occurring in a child. A 6-year-old girl with MFS presented with pain, swelling and deformity in the right thigh following a fall. The patient was diagnosed with a right femoral shaft fracture and underwent open internal fixation surgery at a local hospital. At 2 weeks following surgery, the patient's parents observed increased swelling in the right thigh and thus, revisited the clinic. X-ray examination revealed extensive osteotylus around the fracture site and the clinician decided to remove the internal fixation. Following removal of the implant, aggravated swelling and superficial venous engorgement were observed. The patient was then admitted to Nanfang Hospital, where magnetic resonance imaging was performed, which identified symptoms of an abnormal periosteal reaction with bone erosion, indicating POS. The patient underwent a wide resection of the tumor and the histopathological examination confirmed the diagnosis of POS. No recurrence was identified at 9 months postoperatively. In conclusion, the present case report may result in increased awareness of the possibility of malignant bone tumors in a hereditary patient with osteotylus overgrowth following fracture surgery; in addition, the present case indicated a possible correlation between POS and MFS.

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“…With some added time, working with Clair Francomano and Garry Cutting, he refined the linkage to 15q. 8 In short order, he found the basic defect in FBN1 in two sporadic patients I had followed for many years. 9 In 1978 I called together several of my patients and their families to discuss formation of a support group.…”

Section: Marfan Syndromementioning

confidence: 99%