BACKGROUND: @entity32355 ( @entity32355 ) is a @entity395 characterized by tumorous overgrowth of the muscular wall of the oesophagus. @entity32355 is present in 5  % of @entity3686 ( @entity3686 ) @entity1 . @entity3686 is a rare @entity74 that involves varying degrees of @entity393 , ocular changes and progressive @entity631 leading to @entity177 . In @entity32355 - @entity3686 @entity1 , the @entity74 consists of a deletion involving the @entity3687 and @entity42442 genes on the X chromosome. CASE PRESENTATION: We report a two-generation family (4 individuals; parents and two @entity1 , one male and one female) with two members (mother and son) affected with @entity20866 . Signs of @entity177 , which characterizes @entity3686 , were only apparent in the index @entity1 (son) 2 years and three months after the initial diagnosis of @entity32355 . Blood DNA from the four family members were submitted to exome sequencing and array genotyping to perform a genome wide screening for disease causal single @entity4334 (SN) and copy number (CN) variations. Analyses revealed a new 40kb deletion encompassing from intron 2 of @entity3687 to intron 1 of @entity42442 at Xq22.3. The breakpoints were also identified. Possible confounding pathogenic exonic variants in genes known to be involved in other extracellular matrices disorders were also shared by the two affected individuals. Meticulous analysis of the maternal DNA revealed a case of gonosomal mosaicism. CONCLUSIONS: This is the first report of gonadosomal mosaicism associated to @entity32355 - @entity3686 .

Chinese family with @entity32355 : a new @entity3687 / XXXX deletion and a case of gonosomal mosaicism.

@entity1 :: ('9606', 'Species') :: ['children', 'patients', 'patient'] @entity20866 :: ('MESH:D018231', 'Disease') :: ['oesophageal leiomyomatosis'] @entity3686 :: ('MESH:D009394', 'Disease') :: ['AS', 'Alport syndrome'] @entity177 :: ('MESH:D051437', 'Disease') :: ['renal failure', 'potential renal failure'] @entity32355 :: ('MESH:C537113', 'Disease') :: ['Diffuse oesophageal leiomyomatosis', 'DOL'] @entity3687 :: ('1287', 'Gene') :: ['COL4A5'] @entity4334 :: ('D009711', 'Chemical') :: ['nucleotide'] @entity74 :: ('MESH:D030342', 'Disease') :: ['hereditary disease', 'genetic defect'] @entity42442 :: ('1288', 'Gene') :: ['COL4A6'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disorder'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing impairment'] @entity631 :: ('MESH:D005921', 'Disease') :: ['glomerulonephritis']
@entity42442 :: (1288,Gene) :: ['COL4A6']
