Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.

Background: Isoleucinyl-tRNA synthetase (IARS) is encoded by the IARS1 gene and catalyzes the binding of isoleucine to specific tRNA.

Objective: This study aims to investigate the pathogenicity of novel IARS1 variants and the genotype-phenotype association, in order to expand the spectrum of pathogenic variants and phenotypes of IARS1-related disease and provide new evidence for the phenotypic spectrum of IARS1 variants.

Methods: Clinical data of the proband were collected, and trio whole-exome sequencing (WES) was performed on the proband and the parents.

Correlation of TGF-β signaling pathway gene polymorphisms with unexplained recurrent spontaneous abortion.

Background: The association of key genes in the transforming growth factor-β (TGF-β) signaling pathway and their gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) is unclear.

Objective: To investigate the association of gene polymorphisms related to the TGF-β signaling pathway in URSA women.

Methods: The study population consisted of 80 women with URSA and 90 normal control women, of which 10 women with URSA and 10 normal control women underwent high-throughput sequencing to select loci, and the remaining 70 women with URSA and 80 normal control women underwent flight mass spectrometry experiments to verify gene loci polymorphism.

Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report.

A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented in MED12 deficiency. This study reports the clinical and genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes of the three children were normal.

Low Expression of LEFTY1 in Placental Villi Is Associated with Early Unexplained Miscarriage.

OBJECTIVE: To investigate the function and underlying mechanism of transforming growth factor–beta (TGF-β)/bone morphogenetic protein (BMP) signaling pathway in early unexplained miscarriage. STUDY DESIGN: Expression profiles of genes involved in TGF-β/BMP signaling pathway were compared between placental villous tissue samples from 2 women with missed abortion and those from 2 women with induced abortion by microarray assay. The protein expression level of the most downregulated gene—LEFTY1—was further measured using western blotting in another 8 women with missed abortion and 7 women with induced abortion.

[Phenotypic and genetic analysis of a child featuring multiple malformations due to copy number variation on chromosome 5].

Objective: To determine the origin of chromosomal aberration for a child featuring multiple malformation, and to correlate the genotype with phenotype.

Methods: Routine G-banding was performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) was used for fine mapping of the aberrant region.

Results: The karyotype of the child was ascertained as 46,XY.

A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies.

Testicular regression syndrome (MIM273250) is characterized primarily by absence of gonads in a person of XY karyotype. Phenotypes range from complete female external genitalia (primary or "true" agonadism) to male phenotype with anorchia (testicular regression). Phenotypic differences depend on the stage of embryo development during which testes degenerate.

[Evaluation of CD4+ CD25+ regulatory T cells in the peripheral blood of recurrent spontaneous abortion patients].

Objective: To explore the role of CD4+ CD25+ regulatory T cells (CD4+ CD25+ Tr) in the pathogenesis of recurrent spontaneous abortion.

Methods: Peripheral blood samples were collected from 29 women with unexplainable recurrent spontaneous abortion (the URSA group) and another 20 with normal pregnancy (the control group). The percentage of CD4+ CD25+ Tr in the peripheral blood was measured by flow cytometry.

[AZF microdeletions are not related with recurrent spontaneous abortion].

Objective: To study the relationship between azoospermia factor (AZF) microdeletions of the Y-chromosome and recurrent spontaneous abortion.

Methods: We collected 26 chorionic villus samples from abortive male embryos and 51 blood samples from the husbands whose wives had recurrent spontaneous abortion, extracted genomic DNA from the samples and detected 12 STSs in the AZFa, AZFb and AZFc regions of Yq11.2 by amplification multiplex PCR.

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.

Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM #125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family.

[Observation of spermatogenic cells for infertile patients with Y-chromosomal microdeletion].

Objective: To assess the spermatogenic function of the infertile patients with Y-chromosomal microdeletion.

Methods: Thirty-five 23-44 years old patients with microdeletions of Y chromosome were included in this study. Three semen analyses confirmed that 26 cases were non-obstructive azoospermia and 9 oligospermia with sperm count < 1 x 10(6)/ml.

Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

Heterozygous mutations of COL2A1 gene are responsible for type II collagenopathies. The common skeletal phenotypes include achondrogenesis type II, hypochondrogenesis, Stickler dysplasia, Kniest dysplasia, late onset spondyloepiphyseal dysplasia, and spondyloepiphyseal dysplasia congenita (SEDC). Prevention of SEDC can be achieved by prenatal diagnosis.

[A girl with partial monosomy 18q21: cytogenetic and molecular genetics studies].

This study is about a girl with chromosome deletion of 18q and with mental retardation and mild delay of physical development. Based on karyotyping of high resolution, fluorescence in situ hybridization (FISH) and microsatellite analysis mapping to 18q, we found that the patient's karyotype was interpreted as 46,XX,del(18).(pter-->q21:), ish del(18)(D18Z1+,qter-).

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

Background: Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare heterogeneous group of inherited disorders characterized by low bone mass and increased bone fragility. The four major clinical criteria for diagnosis of OI are osteoporosis with abnormal fragility of the skeleton, blue sclera, dentinogenesis imperfecta, and premature otosclerosis. The presence of two of these abnormalities confirms the diagnosis.

[Direct multiplex-PCR from whole blood for rapid detection of Y chromosome microdeletions].

Objective: To establish a rapid and simple method to detect Y chromosome microdeletions directly using whole blood as starting material for multiplex-PCR.

Methods: Using a self-prepared pHpH-Bufferq, multiplex-PCR amplification was directly carried out from the anticoagulant whole blood sample without DNA extraction step. Twelve sequence tagged sites (STS), namely SY84, SY86, SY127, SY134, SY124, SY132, SY152, SY157, SY239, SY242, SY254 and SY255, in AZFa, AZFb, and AZFc gene regions were detected in 5 different tubes.

[Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome].

Objective: To analyze the clinical, molecular and cytogenetic features of 46, XX (SRY positive) male syndrome.

Methods: The clinical features of 4 patients with 46, XX (SRY positive) male syndrome were analyzed retrospectively. Karyotyping, FISH, PCR amplification of the SRY gene, and Y-chromosome microdeletion were performed to study their molecular cytogenetic features.