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Wolf-Hirschhorn Syndrome

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https://www.readbyqxmd.com/read/28673238/report-of-an-unsual-case-of-anophthalmia-and-craniofacial-cleft-in-a-newborn-with-toxoplasma-gondii-congenital-infection
#1
Gabriel Emmanuel Arce-Estrada, Valeria Gómez-Toscano, Carlos Cedillo-Peláez, Ana Luisa Sesman-Bernal, Vanessa Bosch-Canto, José Luis Mayorga-Butrón, José Antonio Vargas-Villavicencio, Dolores Correa
BACKGROUND: We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. CASE PRESENTATION: A two-month-old male had a twin in utero who disappeared between the 7(th) and the 14(th) week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood...
July 3, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28654864/wolf-hirschhorn-syndrome-candidate-1-whsc1-functions-as-a-tumor-suppressor-by-governing-cell-differentiation
#2
Chuan Yu, Xiaomin Yao, Linjie Zhao, Ping Wang, Qian Zhang, Chengjian Zhao, Shaohua Yao, Yuquan Wei
Wolf-Hirschhorn syndrome candidate 1 (WHSC1) is a histone 3 lysine 36 (H3K36) specific methyltransferase that is frequently deleted in Wolf-Hirschhorn syndrome (WHS). Whsc1 is also found mutated in a subgroup of B-cell derived malignant diseases by genomic translocation or point mutation, both of which resulted in hyperactivity of WHSC1 mediated H3K36 methylation and uncontrolled cell proliferation, suggesting that whsc1 functions as an oncogene. However, here we provided evidences to show that whsc1 also has tumor suppressor functions...
June 24, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28616926/-clinical-application-of-chromosomal-microarray-analysis-in-karyotyping-with-uncertain-genomic-rearrangement
#3
Ting Hu, Zhu Zhang, Jia-Min Wang, Hong-Qian Liu, Zhi-Ying Liu, He Wang, Shan-Ling Liu
OBJECTIVES: To apply chromosomal microarray analysis (CMA) in the diagnosis of karyotyping with uncertain genomic rearrangement. METHODS: We retrospectively reviewed 48 samples (34 samples of amniotic fluid, 14 samples of peripheral blood) of karyotype analyses with uncertain genomic rearrangement in patients admitted to our department from September 2014 to April 2016. The CMA results were compared with those of karyotyping. RESULTS: The 48 samples consisted of 13 samples with marker chromosomes, 19 samples with derivative chromosomes, and 16 samples with balanced translocation...
May 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28538178/wolf-hirschhorn-syndrome-candidate-1-is-necessary-for-correct-hematopoietic-and-b-cell-development
#4
Elena Campos-Sanchez, Nerea Deleyto-Seldas, Veronica Dominguez, Enrique Carrillo-de-Santa-Pau, Kiyoe Ura, Pedro P Rocha, JungHyun Kim, Arafat Aljoufi, Anna Esteve-Codina, Marc Dabad, Marta Gut, Holger Heyn, Yasufumi Kaneda, Keisuke Nimura, Jane A Skok, Maria Luisa Martinez-Frias, Cesar Cobaleda
Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients...
May 23, 2017: Cell Reports
https://www.readbyqxmd.com/read/28444681/-wolf-hirschhorn-syndrome-description-of-a-spanish-cohort-of-51-cases-and-a-literature-review
#5
R Blanco-Lago, I Malaga-Dieguez, J J Granizo-Martinez, L Carrera-Garcia, P Barruz-Galian, P Lapunzina, J Nevado-Blanco, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that gives rise to multiple congenital anomalies, caused by the loss of a distal portion of the short arm of chromosome 4 (4p16.3). It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. AIMS: To establish a register of patients with WHS in Spain, describe their characteristics, determine the prevalence of epilepsy, estimate the degree of psychomotor retardation and perform a review of the literature in order to compare these data with those published to date...
May 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#6
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28397211/-application-of-chromosomal-microarray-analysis-for-the-diagnosis-of-children-with-intellectual-disability-developmental-delay-and-a-normal-karytype
#7
Ting Hu, Hongmei Zhu, Zhu Zhang, Jiamin Wang, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. METHODS: Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. RESULTS: Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28281478/single-port-laparoscopic-splenectomy-for-wandering-spleen-with-splenomegaly-in-a-patient-with-wolf-hirschhorn-syndrome
#8
Ricardo Zorron, Silvio Henriques Cunha, Mariana Caetano Barreto, Henrique Neubarth Phillips
Wolf-Hirschhorn syndrome is a rare genetic condition characterized by typical facial appearance, growth delay, psychomotor retardation and seizures, with a mosaic of other abnormalities reported in the literature. The occurrence of symptomatic wandering spleen with massive splenomegaly and with an indication for splenectomy has not been yet described for this disease. This study reports the first case in the literature of single port splenectomy for this rare condition. In a 21-year-old female patient with Wolf-Hirschhorn syndrome, with abdominal pain and the diagnosis of wandering spleen with splenomegaly (25 cm diameter) led to an indication of elective splenectomy...
April 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28266898/hepatic-malignancy-in-an-infant-with-wolf-hirschhorn-syndrome
#9
Sara Rutter, Raffaella A Morotti, Steven Peterec, Patrick G Gallagher
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28260054/epigenetic-activation-of-whsc1-functions-as-an-oncogene-and-is-associated-with-poor-prognosis-in-cervical-cancer
#10
Zhuolian Yin, Yong Sun, Sufang Ge, Juxiang Sun
Overexpression of Wolf-Hirschhorn syndrome candidate 1 (WHSC1) is commonly observed in various types of tumors. However, the potential mechanism responsible for this molecular event is poorly understood. In the present study, we found that the mRNA levels of WHSC1 were significantly increased in cervical cancer cells, and that CpG sites were almost fully methylated in HaCaT cells, but partially methylated in HeLa and C33A cells. Clinically, the results of quantitative methylation-specific PCR (QMSP) and quantitative real-time PCR (qRT-PCR), showed that methylation levels of the WHSC1 gene were significantly decreased in cervical cancer tumors and inversely correlated with its mRNA expression levels...
April 2017: Oncology Reports
https://www.readbyqxmd.com/read/28228401/wolf-hirschhorn-syndrome-candidate-1-like-1-epigenetically-regulates-nephrin-gene-expression
#11
Yugo Ito, Kan Katayama, Yukino Nishibori, Yoshihiro Akimoto, Akihiko Kudo, Ryota Kurayama, Ichiro Hada, Shohei Takahashi, Toru Kimura, Toshiyuki Fukutomi, Tomohisa Katada, Junichi Suehiro, Olga Beltcheva, Karl Tryggvason, Kunimasa Yan
Altered expression of nephrin underlies the pathophysiology of proteinuria in both congenital and acquired nephrotic syndrome. However, the epigenetic mechanisms of nephrin gene regulation remain elusive. Here, we show that Wolf-Hirschhorn syndrome candidate 1-like 1 long form (WHSC1L1-L) is a novel epigenetic modifier of nephrin gene regulation. WHSC1L1-L was associated with histone H3K4 and H3K36 in human embryonic kidney cells. WHSC1L1-L gene was expressed in the podocytes and functional protein product was detected in these cells...
February 22, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28186593/-prenatal-diagnosis-of-a-case-with-46-xx-del-4-dup-21
#12
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jing Zhang, Xiaohong Zhang
OBJECTIVE: To investigate the genetic cause and prognosis of a fetus with a rare karyotype. METHODS: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus. RESULTS: The fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28148777/sabotaging-of-the-oxidative-stress-response-by-an-oncogenic-noncoding-rna
#13
Nitin Mahajan, Hua-Jun Wu, Richard L Bennett, Catalina Troche, Jonathan D Licht, Jason D Weber, Leonard B Maggi, Michael H Tomasson
Overexpression of the multiple myeloma set domain (MMSET) Wolf-Hirschhorn syndrome candidate 1 gene, which contains an orphan box H/ACA class small nucleolar RNA, ACA11, in an intron, is associated with several cancer types, including multiple myeloma (MM). ACA11 and MMSET are overexpressed cotranscriptionally as a result of the t(4;14) chromosomal translocation in a subset of patients with MM. RNA sequencing of CD138(+) tumor cells from t(4;14)-positive and -negative MM patient bone marrow samples revealed an enhanced oxidative phosphorylation mRNA signature...
February 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28102593/a-case-for-cannabidiol-in-wolf-hirschhorn-syndrome-seizure-management
#14
Karen S Ho, E Robert Wassman
Complex, and sometimes intractable, seizures affect the quality of life and cognitive development of over 90% of individuals with Wolf-Hirschhorn syndrome (WHS). Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. In addition to this possible molecular mechanistic connection, these disorders' seizures share a strikingly similar constellation of features, including clinical presentation, seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28000649/single-port-laparoscopic-splenectomy-for-wandering-spleen-with-splenomegaly-in-a-patient-with-wolf-hirschhorn-syndrome
#15
Ricardo Zorron, Silvio Henriques Cunha, Mariana Caetano Barreto, Henrique Neubarth Phillips
Wolf-Hirschhorn syndrome is a rare genetic condition characterized by typical facial appearance, growth delay, psychomotor retardation and seizures, with a mosaic of other abnormalities reported in the literature. The occurrence of symptomatic wandering spleen with massive splenomegaly and with an indication for splenectomy has not been yet described for this disease. This study reports the first case in the literature of single port splenectomy for this rare condition. In a 21-year-old female patient with Wolf-Hirschhorn syndrome, with abdominal pain and the diagnosis of wandering spleen with splenomegaly (25 cm diameter) led to an indication of elective splenectomy...
December 21, 2016: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/27994945/early-postnatal-seizures-in-a-neonate-with-wolf-hirschhorn-syndrome
#16
Hayato Go, Kentaro Haneda, Hajime Maeda, Kei Ogasawara, Takashi Imamura, Nobuo Momoi, Mitsuaki Hosoya
Background Wolf-Hirschhorn syndrome (WHS), which is characterized by a typical facial appearance, growth retardation, mental retardation, seizures, and congenital cardiac defects, has an estimated incidence of 1 per 50,000 births. Case We report a case of a low birth weight neonate with WHS and seizures, as well as persistent pulmonary hypertension in the early neonatal period. Apgar scores were 6 (1 minute) and 8 (5 minutes) with evident retraction. After admission to the neonatal intensive care unit, the patient had tonic-clonic seizures with epilepticus 30 minute after birth...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27777068/exploring-the-developmental-mechanisms-underlying-wolf-hirschhorn-syndrome-evidence-for-defects-in-neural-crest-cell-migration
#17
REVIEW
Erin L Rutherford, Laura Anne Lowery
Wolf-Hirschhorn Syndrome (WHS) is a neurodevelopmental disorder characterized by mental retardation, craniofacial malformation, and defects in skeletal and heart development. The syndrome is associated with irregularities on the short arm of chromosome 4, including deletions of varying sizes and microduplications. Many of these genotypic aberrations in humans have been correlated with the classic WHS phenotype, and animal models have provided a context for mapping these genetic irregularities to specific phenotypes; however, there remains a significant knowledge gap concerning the cell biological mechanisms underlying these phenotypes...
December 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27752382/airway-management-in-a-patient-with-wolf-hirschhorn-syndrome
#18
John F Gamble, Dinesh J Kurian, Andrea G Udani, Nathaniel H Greene
We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27669901/leucine-zipper-ef-hand-containing-transmembrane-protein-1-letm1-forms-a-ca-2-h-antiporter
#19
Juan Shao, Zhenglin Fu, Yanli Ji, Xiangchen Guan, Shang Guo, Zhanyu Ding, Xue Yang, Yao Cong, Yuequan Shen
Leucine zipper-EF-hand-containing transmembrane protein1 (LETM1) is located in the mitochondrial inner membrane and is defective in Wolf-Hirschhorn syndrome. LETM1 contains only one transmembrane helix, but it behaves as a putative transporter. Our data shows that LETM1 knockdown or overexpression robustly increases or decreases mitochondrial Ca(2+) level in HeLa cells, respectively. Also the residue Glu221 of mouse LETM1 is identified to be necessary for Ca(2+) flux. The mutation of Glu221 to glutamine abolishes the Ca(2+)-transport activity of LETM1 in cells...
September 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27645370/ep10-23-application-of-3d-ultrasonography-in-analysis-of-fetal-anomalies-in-wolf-hirschhorn-syndrome
#20
Z Jurisic, A Jurisic, D Dinic, S Jankovic Raznatovic
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
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