65 results match your criteria segregates mother

A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder.

Am J Med Genet A 2021 Mar 15. Epub 2021 Mar 15.

Université Côte d'Azur, CNRS UMR7275, Institut de Pharmacologie Moléculaire et Cellulaire, Valbonne, France.

Childhood-Onset Schizophrenia (COS) is a very rare and severe psychiatric disorder defined by adult schizophrenia symptoms occurring before the age of 13. We report a microduplication in the 10q26.3 region including part of the Inositol Polyphosphate-5-Phosphatase A (INPP5A) gene that segregates with Schizophrenia Spectrum Disorders (SSDs) in the family of a female patient affected by both COS and Autism Spectrum Disorder (ASD). Read More

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FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.

Int Heart J 2021 Jan 16;62(1):127-134. Epub 2021 Jan 16.

Guangdong Cardiovascular Institute, Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences.

Mutations in the sarcomeric protein filamin C (FLNC) gene have been linked to hypertrophic cardiomyopathy (HCM), as they have been determined to increase the risk of ventricular arrhythmia and sudden death. Thus, in this study, we identified a novel missense mutation of FLNC in a Chinese family with HCM, and, interestingly, a second novel truncating mutation of MYLK2 was discobered in one family member with different phenotype.We performed whole-exome sequencing in a Chinese family with HCM of unknown cause. Read More

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January 2021

Functions of outer mitochondrial membrane proteins: mediating the crosstalk between mitochondrial dynamics and mitophagy.

Cell Death Differ 2021 Mar 18;28(3):827-842. Epub 2020 Nov 18.

Department of Biological Sciences, Faculty of Science, National University of Singapore, 14 Science Drive 4, Singapore, 117543, Republic of Singapore.

Most cellular stress responses converge on the mitochondria. Consequently, the mitochondria must rapidly respond to maintain cellular homeostasis and physiological demands by fine-tuning a plethora of mitochondria-associated processes. The outer mitochondrial membrane (OMM) proteins are central to mediating mitochondrial dynamics, coupled with continuous fission and fusion. Read More

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Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.

Int J Mol Sci 2020 Nov 2;21(21). Epub 2020 Nov 2.

Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80-90% of cases by germline mutations in the tumor suppressor gene . We performed a genetic test of the gene in two Italian young sisters suspected of PJS, since they showed pathognomonic café au lait spots in absence of other symptoms and familiarity. Sequencing of all exons of gene and other 8 genes, suggested to be involved in hamartomatous syndromes, (, , , , , , , ) led to the identification in both the probands of a novel germline silent mutation named c. Read More

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November 2020

Replicative aging is associated with loss of genetic heterogeneity from extrachromosomal circular DNA in Saccharomyces cerevisiae.

Nucleic Acids Res 2020 08;48(14):7883-7898

Ecology and Evolution, Department of Biology, University of Copenhagen, Copenhagen DK-2100, Denmark.

Circular DNA can arise from all parts of eukaryotic chromosomes. In yeast, circular ribosomal DNA (rDNA) accumulates dramatically as cells age, however little is known about the accumulation of other chromosome-derived circles or the contribution of such circles to genetic variation in aged cells. We profiled circular DNA in Saccharomyces cerevisiae populations sampled when young and after extensive aging. Read More

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Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

Mol Genet Metab 2020 03 10;129(3):213-218. Epub 2019 Dec 10.

University of Ottawa, Ottawa, ON, Canada; Newborn Screening Ontario, Canada; Children's Hospital of Eastern Ontario, Canada. Electronic address:

Carnitine Uptake Defect (CUD) is an autosomal recessive disorder due to mutations in the SLC22A5 gene. Classically patients present in infancy with profound muscle weakness and cardiomyopathy with characteristic EKG findings. Later presentations include recurrent hypoketotic hypoglycemia, proximal limb girdle myopathy,and/or recurrent muscle pain. Read More

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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report.

BMC Oral Health 2019 11 15;19(1):249. Epub 2019 Nov 15.

Department of Orthodontics, School of Dentistry, University of North Carolina, Chapel Hill, NC, USA.

Background: Aim of this work was to describe a rare inheritance pattern of Primary Failure of Eruption (PFE) in a small family with incomplete penetrance of PFE and a novel nonsense PTH1R variant.

Case Presentation: The proband, a 26 year-old man with a significant bilateral open-bite, was diagnosed with PFE using clinical and radiographic characteristics. DNA was extracted from the proband and his immediate family using buccal swabs and the entire PTH1R coding sequence was analyzed, revealing a novel heterozygous nonsense variant in exon 7 of PTH1R (c. Read More

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November 2019

Two-step chromosome segregation in the stalked budding bacterium Hyphomonas neptunium.

Nat Commun 2019 07 23;10(1):3290. Epub 2019 Jul 23.

Faculty of Biology, Philipps University, Karl-von-Frisch-Straße 8, 35043, Marburg, Germany.

Chromosome segregation typically occurs after replication has finished in eukaryotes but during replication in bacteria. Here, we show that the alphaproteobacterium Hyphomonas neptunium, which proliferates by bud formation at the tip of a stalk-like cellular extension, segregates its chromosomes in a unique two-step process. First, the two sister origin regions are targeted to opposite poles of the mother cell, driven by the ParABS partitioning system. Read More

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Crystal structure of the coiled-coil domain of Drosophila TRIM protein Brat.

Proteins 2019 08 19;87(8):706-710. Epub 2019 Apr 19.

Department of Chemistry, Institutes of Biomedical Sciences and Multiscale Research Institute of Complex System, Fudan University, Shanghai, People's Republic of China.

Drosophila brain tumor (Brat) is a translational repressor belonging to the tripartite motif (TRIM) protein superfamily. During the asymmetric division of Drosophila neuroblasts, Brat localizes at the basal cortex via direct interaction with the scaffolding protein Miranda (Mira), and segregates into the basal ganglion mother cells after cell division. It was previously reported that both the coiled-coil (CC) and NHL domains of Brat are required for the interaction with Mira, but the underlying structural basis is elusive. Read More

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Progressive programmed cell death inwards across the anther wall in male sterile flowers of the gynodioecious plant Plantago lanceolata.

Planta 2019 Mar 27;249(3):913-923. Epub 2018 Nov 27.

Department of Biology, Maynooth University, National University of Ireland Maynooth, Maynooth, Co. Kildare, Ireland.

Main Conclusion: A cell death signal is perceived and responded to by epidermal cells first before being conveyed inwards across the anther wall in male sterile Plantago lanceolata flowers. In gynodioecious plants, floral phenotype is determined by an interplay between cytoplasmic male sterility (CMS)-promoting factors and fertility-restoring genes segregating in the nuclear background. Plantago lanceolata exhibits at least four different sterilizing cytoplasms. Read More

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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Hum Mutat 2018 07 11;39(7):939-946. Epub 2018 May 11.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Small supernumerary marker chromosomes (sSMC) are chromosomal fragments difficult to characterize genomically. Here, we detail a proband with schizoaffective disorder and a mother with bipolar disorder with psychotic features who present with a marker chromosome that segregates with disease. We explored the architecture of this marker and investigated its temporal origin. Read More

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EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Clin Genet 2018 06 15;93(6):1141-1147. Epub 2018 Mar 15.

Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.

Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in EFNB2 and a family in which segregates a 610-kb deletion at chromosome 13q33 encompassing only ARGLU1 and EFNB2 genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay. Read More

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A novel gene mutation associated with chronic kidney failure at a young age.

Clin Nephrol 2019 Sep;92(3):151-155

Autosomal dominant tubulointerstitial kidney disease (ADTKD) belongs to a group of renal hereditary disorders linked by common findings of tubulointerstitial disease and dominant inheritance. The renal clinical phenotype is characterized by chronic kidney disease, hyperuricemia, gout, and, inconstantly, renal cysts. Uromodulin () gene mutations are related to the clinical phenotype of ADTKD-. Read More

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September 2019

Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.

BMC Nephrol 2018 02 2;19(1):26. Epub 2018 Feb 2.

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 1 Jianshe Road East, Zhengzhou, Henan, 450052, China.

Background: It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China.

Methods: An NDI pedigree was included in this study, including the proband and his mother. Read More

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February 2018

A Novel Role for in a Lebanese Family with Congenital Cardiac Defects.

Front Genet 2017 18;8:217. Epub 2017 Dec 18.

Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.

Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous Lebanese family with 7 conceived children: 2 died of unknown causes, 3 have CHD, and 4 have polydactyly. The aim of the study is to unveil the genetic variant(s) causing these phenotypes using next generation sequencing (NGS) technology. Read More

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December 2017

Mutations in in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.

Mol Autism 2017 9;8:59. Epub 2017 Nov 9.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.

Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene segregates with ASD phenotype.

Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family. Read More

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February 2018

RNA-Guided Cas9-Induced Mutagenesis in Tobacco Followed by Efficient Genetic Fixation in Doubled Haploid Plants.

Front Plant Sci 2016 4;7:1995. Epub 2017 Jan 4.

Plant Reproductive Biology, Physiology and Cell Biology, Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben, Germany.

Customizable endonucleases are providing an effective tool for genome engineering. The resulting primary transgenic individuals (T) are typically heterozygous and/or chimeric with respect to any mutations induced. To generate genetically fixed mutants, they are conventionally allowed to self-pollinate, a procedure which segregates individuals into mutant heterozygotes/homozygotes and wild types. Read More

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January 2017

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Am J Med Genet A 2016 08 3;170(8):2103-10. Epub 2016 Jun 3.

Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France.

Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. Read More

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Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

Indian J Med Res 2016 Jan;143(1):43-8

Hôpital Necker - Enfants Malades. Laboratoire de génétique médicale, Paris, France.

Background & Objectives: ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not express this sign despite the ATRX gene being altered. Most pathological mutations have been localized in two different major domains, the helicase and the plant homeo-domain (PHD)-like domain. Read More

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January 2016

The structural basis of Miranda-mediated Staufen localization during Drosophila neuroblast asymmetric division.

Nat Commun 2015 Oct 1;6:8381. Epub 2015 Oct 1.

Shanghai Key Laboratory of Molecular Catalysis and Innovative Materials, Department of Chemistry and Key Laboratory of Molecular Medicine, Ministry of Education, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai 200433, China.

During the asymmetric division of Drosophila neuroblasts (NBs), the scaffold Miranda (Mira) coordinates the subcellular distribution of cell-fate determinants including Staufen (Stau) and segregates them into the ganglion mother cells (GMCs). Here we show the fifth double-stranded RNA (dsRNA)-binding domain (dsRBD5) of Stau is necessary and sufficient for binding to a coiled-coil region of Mira cargo-binding domain (CBD). The crystal structure of Mira514-595/Stau dsRBD5 complex illustrates that Mira forms an elongated parallel coiled-coil dimer, and two dsRBD5 symmetrically bind to the Mira dimer through their exposed β-sheet faces, revealing a previously unrecognized protein interaction mode for dsRBDs. Read More

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October 2015

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

Fertil Steril 2015 Aug 5;104(2):286-91. Epub 2015 May 5.

Scott Department of Urology, Baylor College of Medicine, Houston, Texas; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas. Electronic address:

Objective: To investigate the genetic cause of nonobstructive azoospermia (NOA) in a consanguineous Turkish family through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations.

Design: Whole-exome sequencing (WES).

Setting: Research laboratory. Read More

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Mitochondria tether protein trash to rejuvenate cellular environments.

Cell 2014 Oct;159(3):471-2

Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH) and Deutsches Krebsforschungszentrum (DKFZ), DKFZ-ZMBH Alliance, Im Neuenheimer Feld 282, 69120 Heidelberg, Germany. Electronic address:

Protein damage segregates asymmetrically in dividing yeast cells, rejuvenating daughters at the expense of mother cells. Zhou et al. now show that newly synthesized proteins are particularly prone to aggregation and describe a mechanism that tethers aggregated proteins to mitochondria. Read More

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October 2014

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.

Basic Res Cardiol 2014 24;109(6):446. Epub 2014 Oct 24.

INSERM, UMR 1087, l'institut du thorax, 8 Quai Moncousu, BP 70721, 44007, Nantes cedex 1, France.

Brugada syndrome (BrS) is characterized by ST-segment elevation in the right precordial leads and is associated with increased risk of sudden cardiac death. We have recently reported families with BrS and SCN5A mutations where some affected members do not carry the familial mutation. We evaluated the involvement of additional genetic determinants for BrS in an affected family. Read More

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Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.

J Alzheimers Dis 2014 ;42(1):109-13

Institute of Human Genetics, Justus Liebig University, Giessen, Germany.

Mutations in the gene PSEN2 are a rare cause of early onset Alzheimer's disease (EOAD). PSEN2 sequence variants are often only found in one patient and pathogenicity cannot be formally documented. Here we describe a previously unrecognized sequence change (c. Read More

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Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family.

Balkan J Med Genet 2013 Dec;16(2):91-6

Çukurova University, Faculty of Medicine, Department of Pathology, Adana, Turkey.

The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Read More

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December 2013

Tracking of chromosome and replisome dynamics in Myxococcus xanthus reveals a novel chromosome arrangement.

PLoS Genet 2013 19;9(9):e1003802. Epub 2013 Sep 19.

Department of Ecophysiology, Max Planck Institute for Terrestrial Microbiology, Marburg, Germany.

Cells closely coordinate cell division with chromosome replication and segregation; however, the mechanisms responsible for this coordination still remain largely unknown. Here, we analyzed the spatial arrangement and temporal dynamics of the 9.1 Mb circular chromosome in the rod-shaped cells of Myxococcus xanthus. Read More

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Fission yeast does not age under favorable conditions, but does so after stress.

Curr Biol 2013 Oct 12;23(19):1844-52. Epub 2013 Sep 12.

Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany.

Background: Many unicellular organisms age: as time passes, they divide more slowly and ultimately die. In budding yeast, asymmetric segregation of cellular damage results in aging mother cells and rejuvenated daughters. We hypothesize that the organisms in which this asymmetry is lacking, or can be modulated, may not undergo aging. Read More

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October 2013

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Eur J Hum Genet 2014 Jan 22;22(1):105-9. Epub 2013 May 22.

1] Division of Molecular and Human Genetics, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA [2] Department of Pediatrics, The Ohio State University, Columbus, OH, USA [3] Center for Cardiovascular and Pulmonary Research, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.

Recent studies have shown that certain copy number variations (CNV) are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorders (ASD), bipolar disorder and intellectual disabilities. Implicated regions and genes have comprised a variety of post synaptic complex proteins and neurotransmitter receptors, including gamma-amino butyric acid A (GABAA). Clusters of GABAA receptor subunit genes are found on chromosomes 4p12, 5q34, 6q15 and 15q11-13. Read More

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January 2014

Two different corticosteroid-binding globulin variants that lack cortisol-binding activity in a greek woman.

J Clin Endocrinol Metab 2012 Nov 4;97(11):4260-7. Epub 2012 Sep 4.

Endocrine Unit, Attikon University Hospital, Athens University Medical School, Second Department of Internal Medicine-Research Institute and Diabetes Center, 1 Rimini Street, Haidari, Athens 12462, Greece.

Background: Corticosteroid-binding globulin (CBG), encoded by SERPINA6, is the principal plasma binding protein for cortisol. Most nonsynonymous single-nucleotide polymorphisms that alter the production or function of CBG occur rarely, and their clinical significance remains obscure.

Methods: Serum and DNA were obtained from a Greek woman with low morning cortisol levels and from family members. Read More

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November 2012

Spindle pole bodies exploit the mitotic exit network in metaphase to drive their age-dependent segregation.

Cell 2012 Mar;148(5):958-72

Institute of Biochemistry, Biology Department, ETH Zurich, 8093 Zurich, Switzerland.

Like many asymmetrically dividing cells, budding yeast segregates mitotic spindle poles nonrandomly between mother and daughter cells. During metaphase, the spindle positioning protein Kar9 accumulates asymmetrically, localizing specifically to astral microtubules emanating from the old spindle pole body (SPB) and driving its segregation to the bud. Here, we show that the SPB component Nud1/centriolin acts through the mitotic exit network (MEN) to specify asymmetric SPB inheritance. Read More

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