Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family

Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. The present report describes a new mutation, which has not been reported in individuals with Birt-Hogg-Dubé syndrome but is of a type predicted to cause disease.

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Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome—McKusick 10030): Further suggestion of autosomal recessive inheritance

American Journal of Medical Genetics ◽

10.1002/ajmg.1320320230 ◽

1989 ◽

Vol 32 (2) ◽

pp. 266-267 ◽

Cited By ~ 17

Author(s):

Virginia P. Sybert ◽

James F. Reynolds

Keyword(s):

Autosomal Recessive ◽

Autosomal Recessive Inheritance ◽

Recessive Inheritance ◽

Distal Limb ◽

Limb Anomalies ◽

Scalp Defects

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B cell malignant lymphoma in a patient with progressive systemic sclerosis and Sjoegren's syndrome Report of a case and review of the literature.

Japanese Journal of Medicine ◽

10.2169/internalmedicine1962.24.155 ◽

1985 ◽

Vol 24 (2) ◽

pp. 155-163 ◽

Cited By ~ 9

Author(s):

Susumu SUGAI ◽

Tomoo TAKIGUCHI ◽

Yuko HIROSE ◽

Shiro SHIMIZU ◽

Junko TACHIBANA ◽

...

Keyword(s):

Systemic Sclerosis ◽

B Cell ◽

Malignant Lymphoma ◽

Progressive Systemic Sclerosis ◽

Review Of The Literature ◽

Sjoegren’S Syndrome ◽

Syndrome Report

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Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Blood ◽

10.1182/blood-2009-04-217851 ◽

2009 ◽

Vol 114 (8) ◽

pp. 1655-1657 ◽

Cited By ~ 14

Author(s):

Claudio Graziano ◽

Simona Carone ◽

Emanuele Panza ◽

Flora Marino ◽

Pamela Magini ◽

...

Keyword(s):

Human Development ◽

Gene Mutation ◽

Autosomal Dominant ◽

Specific Gene ◽

Autosomal Dominant Disorder ◽

Distal Limb ◽

Limb Defects ◽

First Report

Abstract Hereditary thrombocythemia is a rare autosomal dominant disorder caused by mutations in either the thrombopoietin gene (TPO) or its receptor c-MPL. TPO mutations described so far lead to thrombopoietin overproduction through increased translation of m-RNA. Unilateral transverse reduction limb defects are usually sporadic and generally thought to be caused by vascular disruptions. Reports of inherited unilateral limb defects are extremely rare. In the present study, we describe a family with segregation of G185T TPO mutation in the 5′ UTR region in 4 subjects with thrombocythemia. Three of these patients also present congenital transverse limb defects. Association of these events gives a strong hint of the in vivo involvement of thrombopoietin in vasculogenesis, confirming the role of TPO in human development of the hemangioblast, the embryonic progenitor of the hematopoietic and endothelial lineages. This is the first report showing that vascular disruptions could be secondary to specific gene derangements.

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