Neurological manifestations of 2q31 microdeletion syndrome.

Abstract:

:Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster and some neighboring genes including the ZNF385B. The patient showed digital anomalies, growth failure, epileptic seizures, and intellectual disability. Magnetic resonance imaging showed delayed myelination and low signal intensity in the basal ganglia. The ZNF385B is a zinc finger protein expressed in brain. Disruption of ZNF385B was suspected to be responsible for the neurological features of this syndrome.

journal_name

Congenit Anom (Kyoto)

journal_title

Congenital anomalies

authors

Okamoto N,Kimura S,Shimojima K,Yamamoto T

doi

10.1111/cga.12212

subject

Has Abstract

pub_date

2017-11-01 00:00:00

pages

197-200

issue

6

eissn

0914-3505

issn

1741-4520

journal_volume

57

pub_type

  • Possible association between different congenital abnormalities and use of different sulfonamides during pregnancy.

    abstract::The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentia...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2004.00012.x

    authors: Czeizel AE,Puhó E,Sørensen HT,Olsen J

    更新日期:2004-06-01 00:00:00

  • In vitro models of pancreatic differentiation using embryonic stem or induced pluripotent stem cells.

    abstract::Embryonic stem (ES) cells or induced pluripotent stem (iPS) cells are expected as a surrogate cell source for regenerative medicine. Many researchers have reported the differentiation method of insulin-expressing pancreatic β cells from ES or iPS cells. However, the detailed molecular mechanisms underlying the differe...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2010.00307.x

    authors: Higuchi Y,Shiraki N,Kume S

    更新日期:2011-03-01 00:00:00

  • Trend of congenital anomalies over 20 years ascertained by population-based monitoring in Ishikawa Prefecture, Japan.

    abstract::Monitoring in Ishikawa Prefecture (mean population; 1,150,000), during the 20-year period from 1981 to 2000, involved monitoring the prevalence of congenital anomalies starting at gestational week 22. The main objectives of the present study were (1) to investigate the trend over the past 20 years in the prevalence of...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2003.tb01015.x

    authors: Seto T,Nakagawa H,Morikawa Y,Nishijo M,Miura K,Kadoshima Y

    更新日期:2003-12-01 00:00:00

  • Developmental toxicity of indium: embryotoxicity and teratogenicity in experimental animals.

    abstract::Indium, a precious metal classified in group 13 (IIIB) in the periodic table, has been used increasingly in the semiconductor industry. Because indium is a rare metal, technology for indium recycling from transparent conducting films for liquid crystal displays is desired, and its safety evaluation is becoming increas...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2008.00197.x

    authors: Nakajima M,Usami M,Nakazawa K,Arishima K,Yamamoto M

    更新日期:2008-12-01 00:00:00

  • Abnormal expression of tyrosine hydroxylase not accompanied by phosphorylation at serine 40 in cerebellar Purkinje cells of ataxic mutant mice, rolling mouse Nagoya and dilute-lethal.

    abstract::This study examined immunohistochemically the expression of an enzymatically active form of tyrosine hydroxylase (TH), phosphorylated TH at Ser40 (phospho-TH), in the cerebellum of ataxic mutant mice, rolling mouse Nagoya (RMN) and dilute-lethal (DL). TH immunostaining appeared in some Purkinje cells in RMN and DL, bu...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2003.00008.x

    authors: Sawada K,Ando M,Sakata-Haga H,Sun XZ,Jeong YG,Hisano S,Takeda N,Fukui Y

    更新日期:2004-03-01 00:00:00

  • Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia.

    abstract::Report of a female fetus aborted at the 25th week of gestation, with severe microcephalus, trigonocephaly, median cleft lip and palate, arhinia, and anophthalmia. On opening of the skull the cranial cavity seemed to be occupied only by hindbrain structures. The forebrain, including the tentorium cerebelli and the falx...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.1988.28.3.169

    authors: Schmitt HP,Born IA

    更新日期:1988-09-01 00:00:00

  • Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

    abstract::The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal rece...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12144

    authors: Bastaki F,Mohamed M,Nair P,Saif F,Tawfiq N,Aithala G,El-Halik M,Al-Ali M,Hamzeh AR

    更新日期:2016-05-01 00:00:00

  • Significance of sugar chain recognition by galectins and its involvement in disease-associated glycosylation.

    abstract::Galectins are β-galactoside-binding lectins that participate in a wide range of biological processes. Galectins are distributed both inside and outside cells and are believed to have roles in both intra- and extracellular milieus. One of the well-recognized functions of galectins is stabilization of glycoproteins on t...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12055

    authors: Arikawa T,Simamura E,Shimada H,Nakamura T,Hatta T,Shoji H

    更新日期:2014-05-01 00:00:00

  • The dopaminergic system in attention deficit/hyperactivity disorder.

    abstract::Numerous studies have shown the importance of the mesocorticolimbic dopamine system in the pathophysiology of attention deficit/hyperactivity disorder. However, there has been inconsistency in the findings of those studies. Varied and sometimes contradictory interpretation has been made on the basis of similar results...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2003.tb01035.x

    authors: Ohno M

    更新日期:2003-06-01 00:00:00

  • Extraction of DNA from human embryos after long-term preservation in formalin and Bouin's solutions.

    abstract::The "Kyoto Collection of Human Embryos" at Kyoto University was begun in 1961. Although morphological analyses of samples in the Kyoto Collection have been performed, these embryos have been considered difficult to genetically analyze because they have been preserved in formalin or Bouin's solution for 20-50 years. Ow...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12148

    authors: Nagai M,Minegishi K,Komada M,Tsuchiya M,Kameda T,Yamada S

    更新日期:2016-05-01 00:00:00

  • Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

    abstract::Wolf-Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical craniofacial appearance, growth deficiency, developmental delays, and seizures. Previous genotype-phenotype correlation analyses showed some candidate regions for each cl...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12318

    authors: Yamamoto-Shimojima K,Kouwaki M,Kawashima Y,Itomi K,Momosaki K,Ozasa S,Okamoto N,Yokochi K,Yamamoto T

    更新日期:2019-09-01 00:00:00

  • Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

    abstract::Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2010.00291.x

    authors: Wonkam A,Extermann P,Birraux J,Fokstuen S

    更新日期:2011-06-01 00:00:00

  • Herlyn-Werner-Wunderlich syndrome with pregnancy: a rare presentation.

    abstract::Müllerian duct anomalies are infrequently encountered clinical problems and often present with difficulty in diagnosis. A high level of suspicion is the key to diagnosis, which is usually made soon after menarche. However, this is the first reported case of uterus didelphys with obstructed hemivagina and pyocolpos wit...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2008.00195.x

    authors: Rana R,Pasrija S,Puri M

    更新日期:2008-09-01 00:00:00

  • Understanding heart development and congenital heart defects through developmental biology: a segmental approach.

    abstract::ABSTRACT The heart is the first organ to form and function during development. In the pregastrula chick embryo, cells contributing to the heart are found in the postero-lateral epiblast. During the pregastrula stages, interaction between the posterior epiblast and hypoblast is required for the anterior lateral plate m...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2005.00079.x

    authors: Sakabe M,Matsui H,Sakata H,Ando K,Yamagishi T,Nakajima Y

    更新日期:2005-12-01 00:00:00

  • Developmental toxicity of flucytosine following administration to pregnant rats at a specific time point of organogenesis.

    abstract::To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant Sprague Dawley (SD) rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, visce...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12282

    authors: Fujii S,Yabe K,Kariwano-Kimura Y,Furukawa M,Itoh K,Matsuura M,Horimoto M

    更新日期:2019-03-01 00:00:00

  • Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.

    abstract::When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnat...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2006.00111.x

    authors: Kosaki R,Hanai S,Kakishima H,Okada MA,Hayashi S,Ito Y,Takahashi T,Kosaki K,Okuyama T

    更新日期:2006-06-01 00:00:00

  • Structural birth defects associated with omphalocele and gastroschisis, Hawaii, 1986-2001.

    abstract::There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2008.00184.x

    authors: Forrester MB,Merz RD

    更新日期:2008-06-01 00:00:00

  • Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes.

    abstract::The human genome harbors approximately 2000 genes that encode microRNAs (miRNAs), small non-coding RNAs of approximately 20-22 nt that mediate post-transcriptional gene silencing. MiRNAs are generated from long transcripts through stepwise processing by the Drosha/DGCR8, Exportin-5/RanGTP and Dicer/TRBP complexes. Giv...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12043

    authors: Kawahara Y

    更新日期:2014-02-01 00:00:00

  • Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

    abstract::We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of in...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12273

    authors: Kimura Y,Akahira-Azuma M,Harada N,Enomoto Y,Tsurusaki Y,Kurosawa K

    更新日期:2018-11-01 00:00:00

  • Congenital polymicrogyria including the perisylvian region in early childhood.

    abstract::Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying di...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2009.00253.x

    authors: Takano T,Matsuwake K,Yoshioka S,Takeuchi Y

    更新日期:2010-03-01 00:00:00

  • Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.

    abstract::We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangea...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2007.00155.x

    authors: Kikuchi N,Ogino T,Kashiwa H,Muragaki Y

    更新日期:2007-09-01 00:00:00

  • Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter.

    abstract::We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations,...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2009.00228.x

    authors: Yamada K,Uchiyama A,Arai M,Kubodera K,Yamamoto Y,Orii KO,Nagasawa H,Masuno M,Kohno Y

    更新日期:2009-06-01 00:00:00

  • Neural tube defects: Risk factors and preventive measures.

    abstract::For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, whi...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12227

    authors: Kondo A,Matsuo T,Morota N,Kondo AS,Okai I,Fukuda H

    更新日期:2017-09-01 00:00:00

  • Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

    abstract::We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12276

    authors: Corona-Rivera JR,Bobadilla-Morales L,Corona-Rivera A,Peña-Padilla C,Olvera-Molina S,Orozco-Martín MA,García-Cruz D,Ríos-Flores IM,Gómez-Rodríguez BG,Rivas-Soto G,Pérez-Molina JJ

    更新日期:2018-07-01 00:00:00

  • Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.

    abstract::Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intell...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12112

    authors: Shimojima K,Okamoto N,Yamamoto T

    更新日期:2015-08-01 00:00:00

  • Precurrence risk of birth defects in Hawaii.

    abstract::The aim of the investigation was to describe the risk of selected types of birth defects among older siblings of infants and fetuses with specific birth defects. Using data from a population-based birth defects registry in Hawaii for deliveries during 1986-2000, the precurrence risk (risk among older siblings) for any...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2007.00173.x

    authors: Forrester MB,Merz RD

    更新日期:2008-03-01 00:00:00

  • Using zebrafish in systems toxicology for developmental toxicity testing.

    abstract::With the high cost and the long-term assessment of developmental toxicity testing in mammals, the vertebrate zebrafish has become a useful alternative model organism for high-throughput developmental toxicity testing. Zebrafish is also very favorable for the 3R perspective in toxicology; however, the methodologies use...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12142

    authors: Nishimura Y,Inoue A,Sasagawa S,Koiwa J,Kawaguchi K,Kawase R,Maruyama T,Kim S,Tanaka T

    更新日期:2016-01-01 00:00:00

  • Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.

    abstract::Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissence...

    journal_title:Congenital anomalies

    pub_type:

    doi:10.1111/cga.12193

    authors: Mishima T,Watari M,Iwaki Y,Nagai T,Kawamata-Nakamura M,Kobayashi Y,Fujieda S,Oikawa M,Takahashi N,Keira M,Yoshida H,Tonoki H

    更新日期:2017-03-01 00:00:00

  • Bifid choroid plexus: always a normal fetal brain structure variant?

    abstract::Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12006

    authors: Centini G,Imperatore A,Morelli M,Rosignoli L,Passamonti U,Caprioli F,Lituania M

    更新日期:2013-06-01 00:00:00

  • Suspected involvement of the X chromosome in placental mesenchymal dysplasia.

    abstract::So far, 46 cases of placental mesenchymal dysplasia have been reported worldwide. We encountered 15 cases of placental mesenchymal dysplasia (PMD) including 7 cases delivered in our hospital. The incidence of PMD in our hospital was therefore, 7/30,758 (0.02%). The PMD had a peculiar appearance. In the gross findings,...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2002.tb00897.x

    authors: Arizawa M,Nakayama M

    更新日期:2002-12-01 00:00:00