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Macrocephaly

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https://www.readbyqxmd.com/read/28593598/brief-report-macrocephaly-phenotype-and-psychiatric-comorbidity-in-a-clinical-sample-of-mexican-children-and-adolescents-with-autism-spectrum-disorders
#1
Lilia Albores-Gallo, Laura Fritsche-García, Arturo Pabel Miranda-Aguirre, Montserrat Avila-Acosta
Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29...
June 7, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28592837/maternally-derived-15q11-2-q13-1-duplication-and-h19-dmr-hypomethylation-in-a-patient-with-silver-russell-syndrome
#2
Sumito Dateki, Masayo Kagami, Keiko Matsubara, Kei Izumi, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Maki Fukami, Hiroyuki Moriuchi
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11...
June 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28588848/a-case-of-megalencephalic-leukoencephalopathy-with-subcortical-cysts-type-1-was-identified-with-a-novel-compound-heterozygous-alteration-c-135delc-c-423-2dupt-in-china
#3
Cong-Ling Dai, Wen-Bin He, Juan Du, Yue-Qiu Tan, Guang-Xiu Lu, Wen Li
We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing analysis for the c.423+2dupT variant revealed skipping of exon 5.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28588452/structure-function-analysis-of-the-glyr-%C3%AE-2-subunit-autism-mutation-p-r323l-reveals-a-gain-of-function
#4
Yan Zhang, Thi Nhu Thao Ho, Robert J Harvey, Joseph W Lynch, Angelo Keramidas
Glycine receptors (GlyRs) containing the α2 subunit regulate cortical interneuron migration. Disruption of the GlyR α2 subunit gene (Glra2) in mice leads to disrupted dorsal cortical progenitor homeostasis, leading to a depletion of projection neurons and moderate microcephaly in newborn mice. In humans, rare variants in GLRA2, which is located on the X chromosome, are associated with autism spectrum disorder (ASD) in the hemizygous state in males. These include a microdeletion (GLRA2∆ex8-9) and missense mutations in GLRA2 (p...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28584646/a-novel-mutation-of-nfix-causes-sotos-like-syndrome-malan-syndrome-complicated-with-thoracic-aortic-aneurysm-and-dissection
#5
Tsukasa Oshima, Hironori Hara, Norifumi Takeda, Eriko Hasumi, Yukiko Kuroda, Go Taniguchi, Ryo Inuzuka, Kan Nawata, Hiroyuki Morita, Issei Komuro
Malan syndrome has recently been characterized to present Sotos-like phenotypes, such as intellectual disability and macrocephaly, with mutations in the NFIX gene. Herein, we report a 38-year-old patient with a novel single adenine insertion mutation in exon 2 of the NFIX gene (c.290_291insA). He developed early-onset thoracic aortic aneurysm and dissection, which was a rare complication but deserves particular attention in relatively long-lived patients with Sotos-like phenotypes.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28558378/pial-arteriovenous-fistula-and-capillary-malformation-arteriovenous-malformation-associated-with-rasa1-mutation-2-pediatric-cases-with-successful-surgical-management
#6
A Jessey Chugh, Asim Shahid, Sunil Manjila, Deepak Gulati, Nicholas C Bambakidis
We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body...
May 31, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28556953/novel-biallelic-szt2-mutations-in-three-cases-of-early-onset-epileptic-encephalopathy
#7
Naomi Tshuchida, Mitsuko Nakashima, Akihiko Miyauchi, Shinsaku Yoshitomi, Tomokazu Kimizu, Vigneswari Ganesan, Keng Wee Teik, Ch'ng Gaik-Siew, Mitsuhiro Kato, Takeshi Mizuguchi, Atsushi Takata, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Takanori Yamagata, Nakajima Hideaki, Hirotomo Saitsu, Naomichi Matsumoto
The seizure threshold 2 (SZT2) gene encodes a large, highly-conserved protein that is associated with epileptogenesis. In mice, Szt2 is abundantly expressed in the central nervous system. Recently, biallelic SZT2 mutations were found in seven patients (from five families) presenting with epileptic encephalopathy with dysmorphic features and/or non-syndromic intellectual disabilities. In this study, we identified by whole-exome sequencing compound heterozygous SZT2 mutations in three patients with early-onset epileptic encephalopathies...
May 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28555308/radiologically-occult-medulloblastoma-with-hydrocephalus-case-report
#8
Hirokuni Honma, Hideki Ogiwara
INTRODUCTION: There have been no reports of occult medulloblastoma nor noncommunicating hydrocephalus due to radiologically occult brain tumors. Herein, we report radiologically occult medulloblastoma with noncommunicating hydrocephalus. CASE REPORT: A 3-year-old boy presented with macrocephaly, visual field constriction, and papilledema. Neuroimagings showed enlargement of the ventricles without any mass lesions. The CT cisternography did not show influx of the contrast into the ventricles, which suggested local cerebrospinal fluid (CSF) circulatory disturbance at the outlet of the fourth ventricle...
May 29, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#9
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#10
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28471274/contrasting-phenotypes-in-resistance-to-thyroid-hormone-%C3%AE-correlate-with-divergent-properties-of-thyroid-hormone-receptor-%C3%AE-1-mutant-proteins
#11
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka C Offiah, John Stephen Barton, Susan Price, John Wr Schwabe, V Krishna Chatterjee
BACKGROUND: Resistance to Thyroid Hormone alpha (RTHα), a disorder characterised by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor α gene mutations, is rare but probably underrecognised. We sought to correlate the clinical characteristics and response to thyroxine therapy in two adolescent RTHα patients with the properties of the <i>THRA</i> mutation, affecting both TRα1 and TRα2 proteins, they harboured. METHODS: Clinical, auxological, biochemical and physiological parameters were assessed in each patient at baseline and after thyroxine therapy...
May 4, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28462983/alterations-in-metabolic-patterns-have-a-key-role-in-diagnosis-and-progression-of-primrose-syndrome
#12
Alberto Casertano, Paolo Fontana, Raoul C Hennekam, Marco Tartaglia, Rita Genesio, Tina Barbaro Dieber, Lucia Ortega, Lucio Nitsch, Daniela Melis
Primrose syndrome is characterized by unusual facial features, macrocephaly, intellectual disability, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting. Nine patients have been described in the literature. The disorder is due to missense mutations in ZBTB20. Here we describe one newly diagnosed 18-month-old patient and provide 10 year follow-up of an earlier reported patient, highlighting the progression and complexity of the disorder. Metabolic studies showed reduced glucose tolerance with prevalence of amino acids and fatty acids catabolism, ketogenesis, and gluconeogenesis, resulting in a Krebs cycle reversion...
April 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449304/a-case-of-familial-transmission-of-the-newly-described-dnmt3a-overgrowth-syndrome
#13
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, Marie-Ange Delrue
DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. This autosomal dominant condition is characterized by overgrowth, dysmorphic facial features and moderate intellectual disability. Missense and truncating point mutations, a small in-frame deletion, as well as microdeletion 2p23 have been reported. Moreover, DNMT3A is commonly somatically mutated in acute myeloid leukemia. We herein report a family with two siblings and their father affected by the syndrome...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432085/acute-myeloid-leukaemia-in-a-case-with-tatton-brown-rahman-syndrome-the-peculiar-dnmt3a-r882-mutation
#14
Iris H I M Hollink, Ans M W van den Ouweland, H Berna Beverloo, Susan T C J M Arentsen-Peters, C Michel Zwaan, Anja Wagner
BACKGROUND: Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (DNMT3A), referred to as Tatton-Brown-Rahman syndrome (TBRS). Somatically acquired mutations in DNMT3A occur in haematological malignancies and are frequently present in acute myeloid leukaemia (AML) affecting in more than 50% the arginine residue at position 882 (R882)...
April 21, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28414775/xp11-22-deletions-encompassing-cenpvl1-cenpvl2-maged1-and-gspt2-as-a-cause-of-syndromic-x-linked-intellectual-disability
#15
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1)...
2017: PloS One
https://www.readbyqxmd.com/read/28409271/unique-presentation-of-cutis-laxa-with-leigh-like-syndrome-due-to-echs1-deficiency
#16
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade...
April 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#17
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28402856/chd8-mutation-leads-to-autistic-like-behaviors-and-impaired-striatal-circuits
#18
Randall J Platt, Yang Zhou, Ian M Slaymaker, Ashwin S Shetty, Niels R Weisbach, Jin-Ah Kim, Jitendra Sharma, Mitul Desai, Sabina Sood, Hannah R Kempton, Gerald R Crabtree, Guoping Feng, Feng Zhang
Autism spectrum disorder (ASD) is a heterogeneous disease, but genetically defined models can provide an entry point to studying the molecular underpinnings of this disorder. We generated germline mutant mice with loss-of-function mutations in Chd8, a de novo mutation strongly associated with ASD, and demonstrate that these mice display hallmark ASD behaviors, macrocephaly, and craniofacial abnormalities similar to patient phenotypes. Chd8(+/-) mice display a broad, brain-region-specific dysregulation of major regulatory and cellular processes, most notably histone and chromatin modification, mRNA and protein processing, Wnt signaling, and cell-cycle regulation...
April 11, 2017: Cell Reports
https://www.readbyqxmd.com/read/28401059/bannayan-riley-ruvalcaba-syndrome-in-a-patient-with-a-pten-mutation-identified-by-chromosomal-microarray-analysis-a-case-report
#19
Sun Hwa Lee, Eell Ryoo, Hann Tchah
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea...
March 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28400644/phacomatosis-cesioflammea-with-cutis-marmorata-like-lesions-and-unusual-extracutaneous-abnormalities-is-it-a-distinct-disorder
#20
Shyam B Verma, Hitesh K Desai, Vishal N Shah, Rudolf Happle
A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis...
March 2017: Indian Journal of Dermatology
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