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Congenital Anomalies

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https://read.qxmd.com/read/30767287/a-next-generation-sequencing-custom-gene-panel-designed-to-distinguish-isolated-polydactyly-from-syndromic-polydactyly-during-prenatal-diagnosis
#1
Stefano Paolacci, Flavio Faletra, Paolo Enrico Maltese, Mariachiara Quadrifoglio, Matteo Bertelli
Here we report a case of posthumous genetic testing on an aborted fetus. Voluntary termination of pregnancy was chosen after prenatal ultrasound examination showed polydactyly and renal cysts. This article is protected by copyright. All rights reserved.
February 15, 2019: Congenital Anomalies
https://read.qxmd.com/read/30761613/rala-mutation-in-a-patient-with-autism-spectrum-disorder-and-noonan-syndrome-like-phenotype
#2
Nobuhiko Okamoto, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
RASopathies including Noonan syndrome (NS), Costello syndrome, and Cardiofaciocutaneous syndrome are caused by heterozygous germline mutations in genes of the RAS/MAPK pathway that plays a role in cellular proliferation, differentiation, and survival. Novel genes associated with RASopathies are increasing in number (Aoki et al. 2016). This article is protected by copyright. All rights reserved.
February 13, 2019: Congenital Anomalies
https://read.qxmd.com/read/30714224/bmp4-is-an-essential-growth-factor-for-the-initiation-of-genital-tubercle-gt-outgrowth
#3
Daiki Kajioka, Kentaro Suzuki, Shoko Nakada, Shoko Matsushita, Shinichi Miyagawa, Toru Takeo, Naomi Nakagata, Gen Yamada
The external genitalia are appendage organs outgrowing from the posterior body trunk. Murine genital tubercle (GT), anlage of external genitalia, initiates its outgrowth from embryonic day (E) 10.5 as a bud structure. Several growth factors such as Fibroblast growth factor (Fgf), Wnt and Sonic hedgehog (Shh) are essential for the GT outgrowth. However, the mechanisms of initiation of GT outgrowth are poorly understood. We previously identified Bone morphogenetic protein (Bmp) signaling as a negative regulator for GT outgrowth...
February 3, 2019: Congenital Anomalies
https://read.qxmd.com/read/30684281/establishment-of-a-simple-and-rapid-method-to-detect-mecp2-duplications-using-digital-polymerase-chain-reaction
#4
Taichi Imaizumi, Keiko Yamamoto-Shimojima, Hitoshi Yamamoto, Toshiyuki Yamamoto
Genomic copy number variations (CNVs) can be detected by chromosomal microarray testing. However, upon final diagnosis, other methods may be recommended for a validation method to confirm CNVs. Trio analyses or carrier detection in family members are also frequently required. Previously, fluorescence in situ hybridization and/or quantitative PCR have been used; however, these methods present limitations. The purpose of this study was to establish a simple and rapid method to detect genomic copy numbers. We utilized droplet digital PCR (dPCR) with an intercalation method...
January 25, 2019: Congenital Anomalies
https://read.qxmd.com/read/30629771/antenatal-hydronephrosis-and-fetal-urine-sampling
#5
Mehmet Sinan Beksac, Alp Tuna Beksac, Atakan Tanacan, Sezcan Mumusoglu, Doruk Katlan, H Tolga Celik
The aim of this study is to evaluate the significance of renal pelvis aspiration (RPA) in the management of antenatal hydronephrosis (AHN). This study enrolled 15 AHN cases (one twin pregnancy) that necessitated RPA for AHN. Chromosomal abnormalities, gene disorders, and additional life-threatening congenital abnormalities were eliminated prior to intrauterine interventions. Urine analysis were performed for the evaluation of renal function. Normal renal function was observed in 6 neonates/infants (40%) (group 1), whereas impaired renal function and various type of urinary system anomalies were observed in 9 neonates/infants (60%) (group 2) during the short-term and longitudinal follow-up periods...
January 10, 2019: Congenital Anomalies
https://read.qxmd.com/read/30592100/molecular-mechanisms-underlying-the-models-of-neurodevelopmental-disorders-in-maternal-immune-activation-relevant-to-the-placenta
#6
REVIEW
Tsuyoshi Tsukada, Hiroki Shimada, Hiromi Sakata-Haga, Hideaki Iizuka, Toshihisa Hatta
The rapid rise in the prevalence of autism spectrum disorders (ASD) and other psychiatric disorders displaying similar traits has increased the need to elucidate their molecular mechanisms. Epidemiological studies have shown that maternal infection during mid-pregnancy is associated with increased risk of neurodevelopmental disorders such as ASD in offspring. Using maternal infection models, researchers have gathered evidence relevant to such disorders. A comprehensive summary of the changes in the brain structure, function, and behavior in offspring induced by maternal immune activation (MIA) has been reported...
December 28, 2018: Congenital Anomalies
https://read.qxmd.com/read/30536491/a-de-novo-1p35-2-microdeletion-including-pum1-identified-in-a-patient-with-sporadic-west-syndrome
#7
Taichi Imaizumi, Yukiko Mogami, Nobuhiko Okamoto, Keiko Yamamoto-Shimojima, Toshiyuki Yamamoto
Microdeletions in 1p35.2 region are rare and there are only two reports 1,2 . Here, we report an additional patient with a de novo 1p35.2 microdeletion. An 18-month-old boy was born at 38 weeks of gestation by vaginal delivery. His birth weight was 2452 g (-1.2 SD), length was 49 cm (+0.3 SD), and occipitofrontal circumference (OFC) was 31.6 cm (-1.1 SD). This article is protected by copyright. All rights reserved.
December 10, 2018: Congenital Anomalies
https://read.qxmd.com/read/30499140/induction-of-a-thoracolumbar-supernumerary-rib-in-rat-developmental-toxicity-studies-a-short-discussion-on-the-critical-window
#8
Makiko Kuwagata, Mika Senuma, Mai Todoroki, Fumiaki Kumagai, Takayuki Kumamoto, Tetsuo Ogawa
Thoracolumbar supernumerary ribs (TSRs) are classified as less severe skeletal anomalies in rat developmental toxicity studies, although their incidence is relatively high in rodent studies. To investigate the characteristics of the critical window for chemically-induced TSR, in this study, rats were administered 5-fluorocytocine (5-FC) or sodium salicylate (SAL) at one of three time periods on gestational day (GD) 9, early morning (0700), midday (1200 to 1300), or late afternoon (1600 or 1900). The incidence of TSR and other anomalies were assessed in GD20 fetuses...
November 29, 2018: Congenital Anomalies
https://read.qxmd.com/read/30554442/developmental-mutant-mouse-models-for-external-genitalia-formation
#9
REVIEW
Daiki Hashimoto, Taiju Hyuga, Alvin R Acebedo, Mellissa C Alcantara, Kentaro Suzuki, Gen Yamada
Development of external genitalia and perineum is the subject of developmental biology as well as toxicology and teratology researches. Cloaca forms in the lower (caudal) end of endoderm. Such endodermal epithelia and surrounding mesenchyme interact with various signals to form the external genitalia. External genitalia (the anlage termed as genital tubercle: GT) formation shows prominent sexually dimorphic morphogenesis in late embryonic stages, which is an unexplored developmental research field because of many reasons...
November 22, 2018: Congenital Anomalies
https://read.qxmd.com/read/30315596/58th-annual-meeting-of-the-japanese-teratology-society-congenital-anomalies-as-variants
#10
Hironao Numabe
No abstract text is available yet for this article.
November 2018: Congenital Anomalies
https://read.qxmd.com/read/29542186/familial-campomelic-dysplasia-due-to-maternal-germinal-mosaicism
#11
Daisuke Higeta, Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained...
November 2018: Congenital Anomalies
https://read.qxmd.com/read/29520887/evaluation-of-a-patient-with-classical-ehlers-danlos-syndrome-due-to-a-9q34-duplication-affecting-col5a1
#12
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
November 2018: Congenital Anomalies
https://read.qxmd.com/read/29381230/novel-syngap1-variant-in-a-patient-with-intellectual-disability-and-distinctive-dysmorphisms
#13
Yuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
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 intellectual disability in this patient.
November 2018: Congenital Anomalies
https://read.qxmd.com/read/30378700/natural-histories-of-patients-with-wolf-hirschhorn-syndrome-derived-from-variable-chromosomal-abnormalities
#14
Keiko Yamamoto-Shimojima, Masanori Kouwaki, Yuki Kawashima, Kazuya Itomi, Ken Momosaki, Shiro Ozasa, Nobuhiko Okamoto, Kenji Yokochi, Toshiyuki Yamamoto
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 clinical finding. The WHS critical region has been narrowed into the region 2 Mb from the telomere, which includes LETM1 and WHSC1; however, this region is insufficient to cause "typical WHS facial appearance"...
October 31, 2018: Congenital Anomalies
https://read.qxmd.com/read/30375052/early-prenatal-detection-of-short-rib-polydactyly-syndrome-in-a-monochorionic-diamniotic-twin-pregnancy
#15
Li Zhen, Lv-Yin Huang, Dong-Zhi Li
No abstract text is available yet for this article.
October 29, 2018: Congenital Anomalies
https://read.qxmd.com/read/30315601/clinical-study-of-dentocraniofacial-characteristics-in-patients-with-williams-syndrome
#16
Sahori Matsuno, Michiko Tsuji, Rina Hikita, Tsutomu Matsumoto, Yoshiyuki Baba, Keiji Moriyama
Williams syndrome (WS) is a rare congenital anomaly that is characterized by distinctive facial features, congenital heart disease, and behavioral characteristics that include mental retardation. However, only a few reports have documented the dentocraniofacial morphological characteristics of WS in Japanese individuals. The aim of this study was to analyze the dentocraniofacial morphology and growth patterns in a group of nine Japanese subjects (two males and seven females; mean age at admission, 10.1 years) with WS...
October 12, 2018: Congenital Anomalies
https://read.qxmd.com/read/30270463/mutational-analysis-of-the-cyp1b1-gene-in-pakistani-primary-congenital-glaucoma-patients-identification-of-four-known-and-a-novel-causative-variant-at-the-3-splice-acceptor-site-of-intron-2
#17
Rabia Afzal, Sabika Firasat, Haiba Kaul, Bashir Ahmed, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Misbah Shahzadi, Kiran Afshan
Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG. The aim of the present study was to identify genetic mutations in the CYP1B1 gene in PCG cases belonging to 38 Pakistani families. DNA was extracted using blood samples collected from all enrolled patients, their available unaffected family members and controls...
September 30, 2018: Congenital Anomalies
https://read.qxmd.com/read/30270455/novel-insertion-and-a-previously-reported-nonsense-variant-of-aloxe3-gene-lead-to-autosomal-recessive-ichthyosis-in-two-balochi-families
#18
Ambreen Ijaz, Musharraf Jelani, Anila Panezai, Tahmina Rabbani, Iftikhar A Rasool, Jamil Ahmad, Abdul Wali
No abstract text is available yet for this article.
September 30, 2018: Congenital Anomalies
https://read.qxmd.com/read/30225942/ring-chromosome-6-in-a-child-with-anterior-segment-dysgenesis-and-review-of-its-overlap-with-other-foxc1-deletion-phenotypes
#19
Jorge Román Corona-Rivera, Alfredo Corona-Rivera, Luz Consuelo Zepeda-Romero, Izabel Maryalexandra Rios-Flores, Jehú Rivera-Vargas, Mireya Orozco-Vela, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Manuela Pinto-Cardoso, Dezső David, Lucina Bobadilla-Morales
Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1,880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1...
September 18, 2018: Congenital Anomalies
https://read.qxmd.com/read/29405484/report-of-four-novel-variants-in-asns-causing-asparagine-synthetase-deficiency-and-review-of-literature
#20
Chelna Galada, Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
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