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Article
Open AccessBreakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-wa...
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Article
Open AccessWhole-exome analysis of 177 pediatric patients with undiagnosed diseases
Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred...
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Article
Open AccessA case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation
Typically, in cases of adenomatous polyposis, colorectal cancer develops in the third or fourth decade of life. We report the case of a female patient with colorectal polyposis who developed adenocarcinoma at ...
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Article
Open AccessGenotype-phenotype correlation of renal lesions in the tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by loss-of-function mutations in either of two tumor suppressor genes, TSC1 and TSC2. These mutations lead to the growth of benign tumors a...
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Article
Open AccessA Turner syndrome case associated with dic(Y;22)
Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood.
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Article
Open AccessAn aggressive systemic mastocytosis preceded by ovarian dysgerminoma
Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM patient with a previous history of ovarian...
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Article
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications
An inverted duplication with a terminal deletion (inv-dup-del) is one of the complex constitutional structural rearrangements that can occur in a chromosome. Although breakages of dicentric chromosome have bee...
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Article
Open AccessThe Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis
Pathogenic bacteria of the genus Bartonella can induce vasoproliferative lesions during infection. The underlying mechanisms are unclear, but involve secretion of an unidentified mitogenic factor. Here, we use fu...
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Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-...
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Article
Open AccessExonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report
Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been...
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Article
Open AccessGenotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy
Blue cone monochromacy (BCM) is characterized by loss of function of both OPN1LW (the first) and OPN1MW (the downstream) genes on the X chromosome. The purpose of this study was to investigate the first and downs...
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Article
Open AccessA case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements
Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/...
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Article
Preimplantation genetic diagnosis/screening by comprehensive molecular testing
Although embryo screening by preimplantation genetic diagnosis (PGD) has become the standard technique for the treatment of recurrent pregnancy loss in couples with a balanced gross chromosomal rearrangement, ...
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Article
Open AccessIntragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease
In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
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Article
Open AccessPCSK5 mutation in a patient with the VACTERL association
The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia,...
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Article
Open AccessIdentification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome
Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive disorder characterized by prematurity, a thick caseous scale at birth and lifelong atopic diathesis. Here, we describe the first Japanese cas...
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Article
Open AccessBreakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation
The t(8;22)(q24.13;q11.2) has been identified as one of several recurrent constitutional translocations mediated by palindromic AT-rich repeats (PATRRs). Although the breakage on 22q11 utilizes the same PATRR ...
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Article
Open AccessDual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6
Approximately 1 percent of healthy individuals carry human herpesvirus-6 within a host chromosome. This is referred to as chromosomally integrated herpesvirus-6 (CIHHV-6). In this study, we investigated the ch...
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Article
Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations
Gross chromosomal rearrangements (GCRs), such as translocations, deletions or inversions, are often generated by illegitimate repair between two DNA breakages at regions with nucleotide sequences that might po...
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Article
Open AccessDNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation
Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans ...
