Des mutations hétérozygotes du gène COPA, qui code la sous-unité alpha coatomère (COPA), causent une interféronopathie monogénique principalement associée à des atteintes pulmonaire, articulaire et rénale. Le syndrome COPA est maladie auto-inflammatoire rare, caractérisée par expression variable absence de pénétrance fréquemment observée. La quasi-totalité patients ont symptômes pulmonaires, hé...

A family showing a complex translocation between chromosomes 7, 8, and 9 with breakpoints at 7q21, 7q33, 8p23, and 9p23 is described. The proband had been referred because of repeated spontaneous abortions. This is only the second family to be ascertained in this way. Twenty-three other cases of complex translocations are briefly reviewed, eight of which were de novo in origin and 15 familial. ...

Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings. We studied a cohort of 19 families with PXE, and identified 16 different mutations, nine of which were novel variants. The mutation detection rate was about 77%. We fou...

A 6-year-old girl presented to the emergency department after experiencing genital pain, which had lasted for a few hours, in the middle of the night. A physical examination revealed a moving filamentous object (length: about 7 mm) on her external genitalia. The sharp pain disappeared when the object was removed. By using light microscopy, it was identified as an ovulating female pinworm that h...

Background Familial amyloid polyneuropathy (FAP) is an inherited disorder with autosomal dominant transmission and multiple phenotypes, characterized by systemic accumulation of amyloid fibrils. The most common type of FAP is related to a mutant transthyretin (TTR). TTR is mainly synthesized in the liver, but few amount of TTR is produced in the eye, namely in retinal pigment epithelium, which ...

In this article, we summarize the current knowledge of familial influences in anorexia nervosa and bulimia. Three lines of evidence are reviewed: descriptions of family interaction, familial correlates of the course and phenomenology of symptoms, and studies of familial transmission. We conclude that although certain familial patterns are associated with eating disorders, there is no single mec...