Read by QxMD icon Read


Shahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, Bernd Wollnik
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p.(Glu1799Lys), were reported. Here, we describe siblings from a non-consanguineous German family in whom we identified the same heterozygous missense mutation in MTOR. Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c...
October 18, 2016: American Journal of Medical Genetics. Part A
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, Haoqing Zhang, Caiyun Li, Shuai Hou, Danjing Chen, Haiying Yan, Hanmei Li, Huan Huan Peng, Saijun Liu, Xinxin Zhang, Zhiyu Peng, Jian Wang, Huanming Yang, Hui Huang, Jing Wu
Phelan-McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan-McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan-McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother...
October 10, 2016: Oncotarget
Ditza A Zachor, Esther Ben-Itzchak
Autism spectrum disorder (ASD) is a heterogeneous group of disorders which occurs with numerous medical conditions. In previous research, subtyping in ASD has been based mostly on cognitive ability and ASD symptom severity. The aim of the current study was to investigate whether specific medical conditions in ASD are associated with unique behavioral profiles. The medical conditions included in the study were macrocephaly, microcephaly, developmental regression, food selectivity, and sleep problems. The behavioral profile was composed of cognitive ability, adaptive skills, and autism severity, and was examined in each of the aforementioned medical conditions...
2016: Frontiers in Neuroscience
Paria Kashani, Madan Roy, Linda Gillis, Olufemi Ajani, M Constantine Samaan
A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention...
2016: Case Reports in Medicine
Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance T R M Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder...
October 6, 2016: American Journal of Human Genetics
Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang, Zhi-Ping Tan
BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes...
2016: Molecular Cytogenetics
Lijiang Ma, Yavuz Bayram, Heather M McLaughlin, Megan T Cho, Alyson Krokosky, Clesson E Turner, Kristin Lindstrom, Caleb P Bupp, Katey Mayberry, Weiyi Mu, Joann Bodurtha, Veronique Weinstein, Neda Zadeh, Wendy Alcaraz, Zöe Powis, Yunru Shao, Daryl A Scott, Andrea M Lewis, Janson J White, Shalani N Jhangiani, Elif Yilmaz Gulec, Seema R Lalani, James R Lupski, Kyle Retterer, Rhonda E Schnur, Ingrid M Wentzensen, Sherri Bale, Wendy K Chung
Intellectual disabilities are genetically heterogeneous and can be associated with congenital anomalies. Using whole-exome sequencing (WES), we identified five different de novo missense variants in the protein phosphatase-1 catalytic subunit beta (PPP1CB) gene in eight unrelated individuals who share an overlapping phenotype of dysmorphic features, macrocephaly, developmental delay or intellectual disability (ID), congenital heart disease, short stature, and skeletal and connective tissue abnormalities. Protein phosphatase-1 (PP1) is a serine/threonine-specific protein phosphatase involved in the dephosphorylation of a variety of proteins...
December 2016: Human Genetics
Sumito Dateki, Satoshi Watanabe, Fumiko Kinoshita, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi
We herein report a de novo hemizygous 9.2-Mb interstitial deletion of chromosome 11p14.1-15.3 in a 3-year-old Japanese girl with short stature, relative macrocephaly, and delayed closure of cranial fontanelles and sutures. She did not show either any motor or mental development delay. This deletion involves 25 genes including NELL1. The loss of the Nell1 function leads to skeletal defects in the cranial vault and vertebral column, and overexpression of Nell1 causes craniosynostosis in mice. These results imply that short stature and an abnormality of membranous ossification could be explained by haploinsufficiency of NELL1 on 11p14...
September 23, 2016: American Journal of Medical Genetics. Part A
Erin A Gutilla, Oswald Steward
The limited ability for injured adult axons to regenerate is a major cause for limited functional recovery after injury to the nervous system, motivating numerous efforts to uncover mechanisms capable of enhancing regeneration potential. One promising strategy involves deletion or knockdown of the phosphatase and tensin (PTEN) gene. Conditional genetic deletion of PTEN before, immediately following, or several months after spinal cord injury enables neurons of the corticospinal tract (CST) to regenerate their axons across the lesion, which is accompanied by enhanced recovery of skilled voluntary motor functions mediated by the CST...
August 2016: Neural Regeneration Research
Maree Flaherty, Katie Geering, Stephanie Crofts, John Grigg
BACKGROUND: Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase. Deficiency of this lysosomal enzyme impairs the body's ability to break down the glycosaminoglycans - dermatan, heparan and chondroitin sulphate. Coarse facial features and macrocephaly are typically seen along with bony and skeletal abnormalities, including joint contractures and short stature. Widespread involvement occurs in many other tissues including cardiopulmonary, gastrointestinal, and neurological systems...
September 20, 2016: Ophthalmic Genetics
Rebecca J Gordon, Jennifer Bell, Wendy K Chung, Raphael David, Sharon E Oberfield, Sharon L Wardlaw
PURPOSE: Acromegaly in infancy is extremely rare. We describe a 32 year old woman who presented at 6 months of age with isolated macrocephaly, followed by accelerated linear growth. At 21 months of age, her head circumference was 55 cm (+5.5 SD), height was 97.6 cm (+4.4 SD) and weight was 20.6 kg (+6.2 SD). She had markedly elevated levels of growth hormone (GH) (135 ng/ml), IGF-1 (1540 ng/ml) and prolactin (370 ng/ml). A pituitary macroadenoma was surgically resected. Immunohistochemical staining was positive for GH...
September 8, 2016: Pituitary
Karin Weiss, Paulien A Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F Martinez, Jill A Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena Walkiewicz, Joke Beuten, Natalia Gomez-Ospina, Katrina Haude, Chin-To Fong, Gregory M Enns, Jonathan A Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, Koen van Gassen, Glen R Monroe, Gijs van Haaften, Lina Basel-Vanagaite, Xiang-Jiao Yang, Philippe M Campeau, Maximilian Muenke
Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle progression. Also known as Mi2β, CHD4 is an integral subunit of a well-characterized histone deacetylase complex. Here we report five individuals with de novo missense substitutions in CHD4 identified through whole-exome sequencing and web-based gene matching. These individuals have overlapping phenotypes including developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions...
October 6, 2016: American Journal of Human Genetics
Yasunari Niimi
Intracranial arteriovenous shunts (ICAVSs) in young children are characterized with frequent high flow fistulas. In association of high flow fistulas and physiological condition of the developing brain and heart, each disease tends to present at a certain age with unique symptoms. Vein of Galen aneurysmal malformation (VGAM) and dural sinus malformation (DSM) with arteriovenous (AV) shunts tend to present in neonate with high output cardiac failure. In infancy, VGAM, pial AVF and infantile dural AVF tend to present with hydrodynamic disorder such as macrocephaly, ventriculomegaly, prominent facial veins, and developmental delay...
September 7, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Caroline Scholz, Doris Steinemann, Madeleine Mälzer, Mandy Roy, Mine Arslan-Kirchner, Thomas Illig, Jörg Schmidtke, Manfred Stuhrmann
UNLABELLED: We report on an 8-year-old boy with autism spectrum disorder (ASD), speech delay, behavioural problems, disturbed sleep and macrosomia including macrocephaly carrying a microdeletion that contains the entire NCAM2 gene and no other functional genes. Other family members with the microdeletion show a large skull circumference but do not exhibit any symptoms of autism spectrum disorder. Among many ASD-candidate genes, NCAM2 has been assumed to play a pivotal role in the development of ASD because of its function in the outgrowth and bundling of neurites...
October 2016: European Journal of Medical Genetics
Jin Wang, Chunyun Fu, Shujie Zhang, Jingsi Luo, Luping Ouyang, Bobo Xie, Weijia Sun, Sheng He, Jiasun Su, Xuyun Hu, Dongmei Fei, Rongyu Chen, Xin Fan, Shan Ou, Shaoke Chen, Yiping Shen
De novo partial distal 1q trisomy is uncommon and mostly occurs in combination with monosomy of another chromosome due to a parental translocation. Distal 1q trisomy co-occurring with another de novo duplication on a separate chromosome is extremely rare. Here, we reported a patient carrying two large de novo interstitial duplications including a 20Mb duplication at 1q42-q44 and a 14.2Mb duplication at 9q21.12-q21.33. The patient presented with features of pre- and postnatal growth retardation, low birth weight, failure to thrive, developmental delay and frequent infection...
December 5, 2016: Gene
Katrin Õunap
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital imprinting disorders. The expression of both syndromes usually depends on the parental origin of the chromosome in which the imprinted genes reside. SRS is characterized by severe intrauterine and postnatal growth retardation with various additional clinical features such as hemihypertrophy, relative macrocephaly, fifth finger clinodactyly, and triangular facies...
July 2016: Molecular Syndromology
Stephanie M Morris, Courtney L Monroe, David H Gutmann
Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed as a prognostic factor for optic pathway glioma development. In the current study, the authors demonstrate that macrocephaly is not associated with the development of these brain tumors or the need to institute treatment for clinical progression...
August 31, 2016: Journal of Child Neurology
Hart Isaacs
INTRODUCTION: The purpose of this review is to document the various types of astrocytoma that occur in the fetus and neonate, their locations, initial findings, pathology, and outcome. Data are presented that show which patients are likely to survive or benefit from treatment compared with those who are unlikely to respond. MATERIALS AND METHODS: One hundred one fetal and neonatal tumors were collected from the literature for study. RESULTS: Macrocephaly and an intracranial mass were the most common initial findings...
August 27, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Michael C Dewan, Jaims Lim, Clinton D Morgan, Stephen R Gannon, Chevis N Shannon, John C Wellons, Robert P Naftel
OBJECTIVE Endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) offers an alternative to shunt treatment for infantile hydrocephalus. Diagnosing treatment failure is dependent on infantile hydrocephalus metrics, including head circumference, fontanel quality, and ventricle size. However, it is not clear to what degree these metrics should be expected to change after ETV/CPC. Using these clinical metrics, the authors present and analyze the decision making in cases of ETV/CPC failure. METHODS Infantile hydrocephalus metrics, including bulging fontanel, head circumference z-score, and frontal and occipital horn ratio (FOHR), were compared between ETV/CPC failures and successes...
August 26, 2016: Journal of Neurosurgery. Pediatrics
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, Valerie K Jordan, Bum Jun Kim, Molly Starkovich, Jinglan Zhang, Lee-Jun Wong, Sandra A Darilek, Amy M Breman, Yaping Yang, James R Lupski, Amyn K Jiwani, Bibhuti Das, Seema R Lalani, Alejandro D Iglesias, Jill A Rosenfeld, Fan Xia
BACKGROUND: The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have been described as a cause of intellectual disability in males but have not been described in association with congenital heart defects or cardiomyopathy. In this article, we seek to further define the phenotypic consequences of NONO depletion in human subjects...
August 22, 2016: Journal of Medical Genetics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"