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Wolf-Hirschhorn Syndrome

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
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
Z Jurisic, A Jurisic, D Dinic, S Jankovic Raznatovic
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
Hirotaka Motoi, Tohru Okanishi, Sotaro Kanai, Takuya Yokota, Tomohiro Yamazoe, Mitsuyo Nishimura, Ayataka Fujimoto, Takamichi Yamamoto, Hideo Enoki
Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome...
2016: Epilepsy & Behavior Case Reports
Yi Wu, Jiong Tao, Yan-Lin Wang, Wen-Jing Hu, Xu Han, Wei-Wei Cheng
No abstract text is available yet for this article.
October 2016: Prenatal Diagnosis
Yuxia Jin, Xia Liu, Suping Li, Chiyan Zhou, Xiaodan Liu, Qinhao Song, Luming Wang, Zhengyou Miao
OBJECTIVE: To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype. METHODS: G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH). RESULTS: G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
X H Tang, B C Yang, S Zhu, J Su, J M Zhang, Y F Yin, Y Feng, D M Li, Q F Zhao, R Yu, B S Zhu
OBJECTIVE: To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. METHODS: From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis...
May 25, 2016: Zhonghua Fu Chan Ke za Zhi
U Friebe-Hoffmann, F Reister, H Gaspar, H Hummler, W Lindner, K Lato
Wolf-Hirschhorn syndrome (WHS) represents a complex developmental disorder characterized by craniofacial dysmorphism, short stature, hypotonia, psychomotor retardation and seizures caused by a terminal deletion of the short arm of chromosome 4. Depending on the extent of the deletion, variable midline defects, abnormalities of the skeletal or urogenital system as well as the central nervous system are observed. Approximately 1/3 of the infants will die in the first year of life even though survival for more than 30 years has been reported...
May 20, 2016: Zeitschrift Für Geburtshilfe und Neonatologie
Wen-Xu Yang, Hong Pan, Lin Li, Hai-Rong Wu, Song-Tao Wang, Xin-Hua Bao, Yu-Wu Jiang, Yu Qi
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH). METHODS: Clinical information was collected from ten patients with WHS...
March 20, 2016: Chinese Medical Journal
Amina Kurtovic-Kozaric, Lejla Mehinovic, Meliha Stomornjak-Vukadin, Ilvana Kurtovic-Basic, Feriha Catibusic, Mirza Kozaric, Senka Mesihovic-Dinarevic, Mensuda Hasanhodzic, Darinka Glamuzina
Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report 4 patients with DiGeorge syndromes, 4 patients with Prader-Willi/Angelman, 4 patients with Wolf-Hirschhorn syndrome, and 3 patients with Williams syndrome in the analyzed 7 year period...
2016: Bosnian Journal of Basic Medical Sciences
Wen-Xu Yang, Hong Pan, Song-Tao Wang, Lin Li, Hai-Rong Wu, Yu Qi
OBJECTIVE: We present prenatal diagnosis, genetic counseling, and molecular cytogenetic features of familial recurrence of Wolf-Hirschhorn syndrome (WHS). MATERIALS AND METHODS: A 31-year-old woman was referred to a hospital at 24 weeks of gestation because of abnormal ultrasound findings in the fetus. Her first child was a boy who had growth retardation, mental defect, and a distinctive facial appearance. Based on the conventional cytogenetic analysis, the combined use of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH) facilitated the prenatal diagnosis and genetic counseling in the fetus...
February 2016: Taiwanese Journal of Obstetrics & Gynecology
Xiangyu Zhu, Jie Li, Tong Ru, Yaping Wang, Yan Xu, Ying Yang, Xing Wu, David S Cram, Yali Hu
OBJECTIVE: To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD: Chromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using high-resolution CMA and copy number variation sequencing (CNV-Seq)...
April 2016: Prenatal Diagnosis
Ayako Itakura, Yoshiaki Saito, Yoko Nishimura, Tetsuya Okazaki, Koyo Ohno, Hitoshi Sejima, Toshiyuki Yamamoto, Yoshihiro Maegaki
A girl with mild psychomotor developmental delay developed right or left hemiclonic convulsion at 10months of age. One month later, clusters of hemiclonic or bilateral tonic seizures with eyelid twitching emerged, resulting in status epilepticus. Treatment with phenobarbital and potassium bromide completely terminated the seizures within 10days. Ictal electroencephalography revealed a migrating focus of rhythmic 3-4Hz waves from the right temporal to right frontal regions and then to the left frontal regions...
August 2016: Brain & Development
Myles B Poulin, Jessica L Schneck, Rosalie E Matico, Patrick J McDevitt, Michael J Huddleston, Wangfang Hou, Neil W Johnson, Sara H Thrall, Thomas D Meek, Vern L Schramm
Nuclear receptor SET domain containing protein 2 (NSD2) catalyzes the methylation of histone H3 lysine 36 (H3K36). It is a determinant in Wolf-Hirschhorn syndrome and is overexpressed in human multiple myeloma. Despite the relevance of NSD2 to cancer, there are no potent, selective inhibitors of this enzyme reported. Here, a combination of kinetic isotope effect measurements and quantum chemical modeling was used to provide subangstrom details of the transition state structure for NSD2 enzymatic activity. Kinetic isotope effects were measured for the methylation of isolated HeLa cell nucleosomes by NSD2...
February 2, 2016: Proceedings of the National Academy of Sciences of the United States of America
Karen S Ho, Sarah T South, Amanda Lortz, Charles H Hensel, Mallory R Sdano, Rena J Vanzo, Megan M Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C Carey, Agatino Battaglia
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS. We hypothesised that the size and location of the deleted region may correlate with seizure presentation. METHODS: Using chromosomal microarray analysis, we finely mapped the breakpoints of copy number variants (CNVs) in 48 individuals with WHS. Seizure phenotype data were collected through parent-reported answers to a comprehensive questionnaire and supplemented with available medical records...
April 2016: Journal of Medical Genetics
Thomas Iype, Vafa Alakbarzade, Mary Iype, Royana Singh, Ajith Sreekantan-Nair, Barry A Chioza, Tribhuvan M Mohapatra, Emma L Baple, Michael A Patton, Thomas T Warner, Christos Proukakis, Abhi Kulkarni, Andrew H Crosby
BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance...
November 10, 2015: BMC Medical Genetics
Solmaz Abdolrahimzadeh, Valeria Fameli, Roberto Mollo, Maria Teresa Contestabile, Andrea Perdicchi, Santi Maria Recupero
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions...
2015: BioMed Research International
Yanling Dong, Huamei Hu, Hua Hu, Rong Zhang, Bin Hu, Yang Long, Gang Xu, Hong Yao
OBJECTIVE: To detect chromosomal imbalance in a fetus with complex congenital heart disease, and to correlate the genotype with the phenotype. METHODS: Routine G-banding was carried out to analyze the karyotypes of the fetus and its parents, and single nucleotide polymorphisms array (SNP-array) was used for delineating fine genomic aberrations. The detected aberrations were confirmed with multiplex ligation-dependent probe amplification (MLPA). RESULTS: The fetus and its parents all showed a normal karyotype, while array-SNP has detected a 13...
August 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Agatino Battaglia, John C Carey, Sarah T South
Since 4p- was first described in 1961, significant progress has been made in our understanding of this classic deletion disorder. We have been able to establish a more complete picture of the WHS phenotype associated with distal 4p monosomy, and we are working to delineate the phenotypic effects when each gene on distal 4p is hemizygous. Our aim is to provide genotype-specific anticipatory guidance and recommendations to families of individuals with a diagnosis of WHS. In addition, establishing the molecular underpinnings of the disorder will potentially suggest targets for molecular treatments...
September 2015: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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