Truncating mutations in exons 20 and 21 of can cause primary ciliary dyskinesia without associated syndromic symptoms.

Background: Primary ciliary dyskinesia (PCD) is a motile ciliopathy, whose symptoms include airway infections, male infertility and . Apart from the typical forms of PCD, rare syndromic PCD forms exist. Mutations of the X-linked gene cause several syndromic ciliopathies, including oral-facial-digital syndrome type 1, Joubert syndrome type 10 (JBTS10), and Simpson-Golabi-Behmel syndrome type 2, the latter causing the X-linked syndromic form of PCD.

: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking.

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous hereditary disease from a class of ciliopathies. In spite of the recent progress, the genetic basis of PCD in one-third of patients remains unknown. In search for new genes and/or mutations, whole-exome sequencing was performed in 120 unrelated Polish patients with PCD, in whom no genetic cause of PCD was earlier identified.

ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: genotyping the already known PCD-related genes explains the genetic basis in 60-65% of the cases, depending on the population. While identification of new genes involved in PCD pathogenesis remains crucial, the search for new, population-specific mutations causative for PCD is equally important.

Effects of age and gender on micronucleus and chromosome nondisjunction frequencies in centenarians and younger subjects.

Studies have shown a significant increase in chromosome aneuploidy with age. The aim of this study was to elucidate whether the age-related changes in the level of hypoploidy correlate with the occurrence of micronuclei (MN) and chromosome nondisjunction (ND) in men and women. We analyzed cytokinesis-blocked (binucleated) lymphocytes treated with cytochalasin B, from 127 donors varying in gender and age including 53 centenarians.

Correlation between the level of cytogenetic aberrations in cultured human lymphocytes and the age and gender of donors.

To answer whether the age-related accumulation of chromosomal damage differs in men and women, and whether the aberration level in centenarians is proportional to their age, cytogenetic aberrations in dividing cells were analyzed. G-band karyotyping of mitotic spreads from lymphocytes was performed in 52 Polish centenarians and 71 controls (aged 21-78). Statistical evaluation was performed using nonparametric tests and regression analysis.

The 102-year old woman with translocation (7;12) and infertility in anamnesis.

In this study we present a 102-year old woman carrying a (7;12)(q11.3;q14) translocation. A woman displays a normal phenotype and infertility in anamnesis.

Manifestations of ageing at the cytogenetic level.

The effects of ageing in humans appear to be a combination of influence of genetically programmed phenomena and exogenous environmental factors, and take place at the cellular level (senescence), rather than at the level of the organism. There are many processes, which occur in somatic cells as a consequence of DNA replication (accumulation of DNA errors or mutations that outstrip repair processes, telomere shortening, deregulation of apoptosis, etc.) and which drive replicative senescence in human cells.

Infertility status of male individuals with abnormal spermiogram evaluated by cytogenetic analysis and in vitro sperm penetration assay.

Background: The possibility of a link between altered sperm morphology and functional ability, possibly reflected on the genetic level, is still a matter of controversy.

Material/methods: 60 infertile males with pathological spermiogram and 14 healthy individuals with confirmed in vivo fertility were selected for our study. Ejaculated sperm was assessed according to the standard criteria set by the World Health Organization, which constituted a basis for subgroup classification.