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https://www.readbyqxmd.com/read/28339631/evidence-for-the-involvement-of-the-proximal-copy-of-the-magea9-gene-in-xq28-linked-cnv67-specific-to-spermatogenic-failure%C3%A2
#1
Ying Shen, Jinyan Xu, Xiling Yang, Yunqiang Liu, Yongyi Ma, Dong Yang, Qiang Dong, Yuan Yang
Spermatogenic failure characterized by impaired sperm production is a common multifactorial disease with molecular and cytogenetic causes for its extreme phenotype that include azoospermia and severe oliogzoospermia. Recently, a high-resolution array-comparative genomic hybridization analysis of the X chromosome and a subsequent cohort study revealed three X-linked microdeletions (CNV64, CNV67, and CNV69) that were associated with decreased sperm production in a mixed group that included Spanish and Italian males...
February 7, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28337063/a-novel-mutation-and-in-vivo-confocal-microscopic-findings-in-fabry-disease
#2
Cumali Degirmenci, Suzan Guven Yilmaz, Huseyin Onay, Melis Palamar, Sema Kalkan Ucar, Meral Kayikcioglu, Mahmut Coker
Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene...
January 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28335619/over-expression-of-the-x-linked-inhibitor-of-apoptosis-protects-against-retinal-degeneration-in-a-feline-model-of-retinal-detachment
#3
Sarah Wassmer, Brian Leonard, Stuart Coupland, Adam Baker, John Hamilton, William W Hauswirth, Catherine Tsilfidis
Retinal detachment is an acute disorder in humans that is caused by trauma or disease, and it can often lead to permanent visual deficits that result from the death of photoreceptors in the retina. The final pathway for photoreceptor cell death is apoptosis and necroptosis. The X-linked inhibitor of apoptosis (XIAP) has been shown to block both of these cell death pathways. We tested the effects of XIAP on photoreceptor survival in a feline model of retinal detachment. The study was performed in 12 cats, divided into 2 experimental groups...
March 23, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28334953/early-motor-phenotype-detection-in-a-female-mouse-model-of-rett-syndrome-is-improved-by-cross-fostering
#4
Annie Vogel Ciernia, Michael Pride, Blythe Durbin-Johnson, Adriana Noronha, Alene Chang, Dag H Yasui, Jacqueline N Crawley, Janine M LaSalle
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that occur sporadically in 1:10,000 female births. RTT is characterized by a period of largely normal development followed by regression in language and motor skills at 6-18 months of age. Mecp2 mutant mice recapitulate many of the clinical features of RTT, but the majority of behavioral assessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams...
March 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334782/golgi-retained-cx32-mutants-interfere-with-gene-addition-therapy-for-cmt1x
#5
Styliana Kyriakoudi, Irene Sargiannidou, Alexia Kagiava, Margarita Olympiou, Kleopas A Kleopa
Numerous GJB1 gene mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X). GJB1 encodes connexin32 (Cx32), which forms trans-myelin gap junctions in Schwann cells. Most GJB1 mutations result in loss-of-function mechanisms, supporting the concept of gene replacement therapy. However, interactions between delivered wild type and endogenously expressed mutant Cx32 may potentially occur in the setting of gene replacement therapy. In order to screen for possible interactions of several representative CMT1X mutants with wild type Cx32 that may interfere with functional gap junction formation, we established an in vitro screening method co-expressing in HeLa cells wild type Cx32 and one of eight different Cx32 mutants including A39P, A39V, T55I, R75W, M93V, L143P, N175D and R183S...
February 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333712/disseminated-lichtheimia-ramosa-infection-after-hematopoietic-stem-cell-transplantation-in-a-child-with-chronic-granulomatous-disease
#6
Michael Winstead, John Ozolek, Andrew Nowalk, John Williams, Mark Vander Lugt, Philana Lin
Mucormycosis is uncommon in patients with chronic granulomatous disease (CGD). We report a 7-year-old boy with X-linked CGD and absent oxidative burst who developed fatal Lichtheimia ramosa infection with fungal thrombosis of the kidneys, spleen, and other organs following hematopoietic stem cell transplantation (HSCT). Lichtheimia infection is rarely reported in patients with CGD and could be related to iatrogenic immunosuppression.
March 22, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28332632/loss-of-chromosome-y-leads-to-down-regulation-of-kdm5d-and-kdm6c-epigenetic-modifiers-in-clear-cell-renal-cell-carcinoma
#7
Madeleine Arseneault, Jean Monlong, Naveen S Vasudev, Ruhina S Laskar, Maryam Safisamghabadi, Patricia Harnden, Lars Egevad, Nazanin Nourbehesht, Pudchalaluck Panichnantakul, Ivana Holcatova, Antonin Brisuda, Vladimir Janout, Helena Kollarova, Lenka Foretova, Marie Navratilova, Dana Mates, Viorel Jinga, David Zaridze, Anush Mukeria, Pouria Jandaghi, Paul Brennan, Alvis Brazma, Jorg Tost, Ghislaine Scelo, Rosamonde E Banks, Mark Lathrop, Guillaume Bourque, Yasser Riazalhosseini
Recent genomic studies of sporadic clear cell renal cell carcinoma (ccRCC) have uncovered novel driver genes and pathways. Given the unequal incidence rates among men and women (male:female incidence ratio approaches 2:1), we compared the genome-wide distribution of the chromosomal abnormalities in both sexes. We observed a higher frequency for the somatic recurrent chromosomal copy number variations (CNVs) of autosomes in male subjects, whereas somatic loss of chromosome X was detected exclusively in female patients (17...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332368/multiplex-ligation-dependent-probe-amplification-in-x-linked-recessive-muscular-dystrophy-in-korean-subjects
#8
Mi Ri Suh, Kyung A Lee, Eun Young Kim, Jiho Jung, Won Ah Choi, Seong Woong Kang
PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries. We analyzed multiplex ligation-dependent probe amplification (MLPA) data in a large number of Korean patients with DMD/BMD. MATERIALS AND METHODS: We obtained 130 positive MLPA results (86 DMD, 27 BMD, and 17 female carriers) from 272 candidates (237 clinically suspected patients and 35 possible female carriers) who took part in this study...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28332028/infection-profile-in-chronic-granulomatous-disease-a-23-year-experience-from-a-tertiary-care-center-in-north-india
#9
Amit Rawat, Pandiarajan Vignesh, Avinash Sharma, Jitendra K Shandilya, Madhubala Sharma, Deepti Suri, Anju Gupta, Vikas Gautam, Pallab Ray, Shivaprakash M Rudramurthy, Arunaloke Chakrabarti, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Yu L Lau, Surjit Singh
PURPOSE: Chronic granulomatous disease (CGD) is an inherited phagocytic disorder characterized by recurrent infections with usually catalase-positive organisms. Infections in CGD from developing countries are expected to be different from those in the Western countries. We report the profile of infections in children diagnosed with CGD from a tertiary care center in North India. METHODOLOGY: Case records of children diagnosed with CGD at Pediatric Immunodeficiency Clinic, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India, from August 1993 to April 2016 (23 years) were analyzed...
March 22, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28329493/ichthyosis-follicularis-with-alopecia-and-photophobia-syndrome-ifap-a-case-report
#10
Bruno Ferrari, Lucila Morita, Keith Choate, Rong-Hua Hu
IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. It is caused by loss of function of the gene MBTPS2. Its severity varies and there are only a few reports in the literature. We present a patient with characteristic clinical features and a mutation not previously reported.
February 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#11
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328133/an-xq22-1q22-2-nullisomy-in-a-male-patient-with-severe-neurological-impairment
#12
Kentaro Shirai, Yuya Higashi, Keiko Shimojima, Toshiyuki Yamamoto
The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD). Compared to PLP1 duplications, which are a major contributor to PMD, chromosomal deletions in this region are rare and only a few PMD patients with small deletions have been reported, suggesting that large deletions of this region would cause embryonic lethality. Previously, we have reported female patients, with chromosomal deletions in this region, who showed severe developmental delays and behavioral abnormalities...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327595/x-linked-inhibitor-of-apoptosis-inhibits-apoptosis-and-preserves-the-blood-brain-barrier-after-experimental-subarachnoid-hemorrhage
#13
Cheng Gao, Hongwei Yu, Cong Yan, Wenyang Zhao, Yao Liu, Dongdong Zhang, Jingwei Li, Nan Liu
Early brain injury following subarachnoid hemorrhage (SAH) strongly determines the prognosis of patients suffering from an aneurysm rupture, and apoptosis is associated with early brain injury after SAH. This study was designed to explore the role of X-linked inhibitor of apoptosis (XIAP) in early brain injury following SAH. The expression of XIAP was detected using western blotting and real-time RT-PCR in an autologous blood injection model of SAH. We also studied the role of XIAP in early brain injury and detected apoptosis-related proteins...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28326356/effect-of-four-monthly-doses-of-a-human-monoclonal-anti-fgf23-antibody-krn23-on-quality-of-life-in-x-linked-hypophosphatemia
#14
Mary D Ruppe, Xiaoping Zhang, Erik A Imel, Thomas J Weber, Mark A Klausner, Takahiro Ito, Maria Vergeire, Jeffrey S Humphrey, Francis H Glorieux, Anthony A Portale, Karl Insogna, Munro Peacock, Thomas O Carpenter
X-linked hypophosphatemia (XLH) is characterized by lower extremity deformities that lead to bone and/or joint pain that result from decreased renal tubular reabsorption leading to hypophosphatemia caused by elevated levels of fibroblast growth factor 23 (FGF23). OBJECTIVE: Validate the use of SF-36v2 Health Survey (SF-36v2) and the Western Ontario and McMaster Osteoarthritis Index (WOMAC) to measure previously unstudied health-related quality of life (HRQoL) in XLH patients and determine the change in HRQoL before and after treatment with KRN23, a human monoclonal anti-FGF23 antibody...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28325276/limiting-thymic-precursor-supply-increases-the-risk-of-lymphoid-malignancy-in-murine-x-linked-severe-combined-immunodeficiency
#15
Samantha L Ginn, Claus V Hallwirth, Sophia H Y Liao, Erdahl T Teber, Jonathan W Arthur, Jianmin Wu, Hong Ching Lee, Szun S Tay, Min Hu, Roger R Reddel, Matthew P McCormack, Adrian J Thrasher, Marina Cavazzana, Stephen I Alexander, Ian E Alexander
In early gene therapy trials for SCID-X1, using γ-retroviral vectors, T cell leukemias developed in a subset of patients secondary to insertional proto-oncogene activation. In contrast, we have reported development of T cell leukemias in SCID-X1 mice following lentivirus-mediated gene therapy independent of insertional mutagenesis. A distinguishing feature in our study was that only a proportion of transplanted γc-deficient progenitors were transduced and therefore competent for reconstitution. We hypothesized that reconstitution of SCID-X1 mice with limiting numbers of hematopoietic progenitors might be a risk factor for lymphoid malignancy...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28324326/the-impact-of-fabry-disease-on-reproductive-fitness
#16
Dawn A Laney, Virginia Clarke, Allison Foley, Eric W Hall, Scott E Gillespie, Myrl Holida, Morgan Simmons, Alexandrea Wadley
Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada...
March 22, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28324000/trh-action-is-impaired-in-pituitaries-of-male-igsf1-deficient-mice
#17
Marc-Olivier Turgeon, Tanya L Silander, Denica Doycheva, Xiao-Hui Liao, Marc Rigden, Luisina Ongaro, Xiang Zhou, Sjoerd D Joustra, Jan M Wit, Mike G Wade, Heike Heuer, Samuel Refetoff, Daniel J Bernard
Loss-of-function mutations in the X-linked immunoglobulin superfamily, member 1 (IGSF1) gene cause central hypothyroidism. IGSF1 is a transmembrane glycoprotein of unknown function expressed in TSH-producing thyrotrope cells of the anterior pituitary gland. The protein is co-translationally cleaved, with only its C-terminal domain (CTD) being trafficked to the plasma membrane. Most intragenic IGSF1 mutations in humans map to the CTD. Here, we used CRISPR-Cas9 to introduce a loss-of-function mutation into the IGSF1-CTD in mice...
January 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/28322501/multigenerational-pedigree-with-star-syndrome-a-novel-fam58a-variant-and-expansion-of-the-phenotype
#18
Nicole J Boczek, Teresa Kruisselbrink, Margot A Cousin, Patrick R Blackburn, Eric W Klee, Ralitza H Gavrilova, Brendan C Lanpher
STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss. The proband's mother and maternal half-sister had similar clinical histories, but had variability in phenotypic severity. Clinical whole exome sequencing revealed a novel pathogenic nonsense variant, c...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28321612/serial-serum-immunoglobulin-g-igg-trough-levels-in-patients-with-x-linked-agammaglobulinemia-on-replacement-therapy-with-intravenous-immunoglobulin-its-correlation-with-infections-in-indian-children
#19
Deepti Suri, Sagar Bhattad, Avinash Sharma, Anju Gupta, Amit Rawat, Shobha Sehgal, Surjit Singh, Sudhir Gupta
Patients with primary antibody deficiency (PAD) are being increasingly diagnosed in the developing world. However, care of these children continues to remain suboptimal due to financial and social constraints. Immunoglobulin (Ig) trough level is an important predicting factor for infections in children on replacement immunoglobulin therapy. There are no data on this aspect from the developing world. Therefore, we studied serial immunoglobulin G (IgG) trough levels in 14 children with X-linked agammaglobulinemia (XLA) receiving replacement intravenous immunoglobulin (IVIG)...
March 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28320872/the-drosophila-daxx-like-protein-dlp-cooperates-with-asf1-for-h3-3-deposition-and-heterochromatin-formation
#20
Catherine Fromental-Ramain, Philippe Ramain, Ali Hamiche
Histone variants are non-allelic isoforms of canonical histones and they are deposited, in contrast to canonical histones, in a replication-independent (RI) manner. RI deposition of H3.3, a histone variant from the H3.3 family, is mediated in mammals by distinct pathways involving either the histone regulator A (HIRA) complex or the death-associated protein (DAXX)/α-thalassemia X-linked mental retardation protein (ATRX) complex. Here, we investigated the function of Drosophila DAXX Like Protein (DLP) by using both fly genetics approaches and protein biochemistry...
March 20, 2017: Molecular and Cellular Biology
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