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https://www.readbyqxmd.com/read/28329640/diagnostic-parameters-of-children-with-basal-cell-carcinoma-nevus-syndrome
#1
Fariha T Siddiqui
Basal Cell Carcinoma Nevus Syndrome (BCCNS) is a multi-system genetic disease characterized by the development of multiple basal cell carcinomas (BCCs), macrocephaly, medulloblastomas, jaw keratocysts, and coarse facial features, amongst other symptoms. The major and minor criteria for adults with BCCNS are often extrapolated for children, however, little is known about the disease presentation of children with BCCNS. Our study focused on bringing the pediatric presentation of BCCNS to light. To the best of our knowledge, we are the first to investigate BCCNS and its medical impact on children...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328116/brain-morphology-in-children-with-nevoid-basal-cell-carcinoma-syndrome
#2
Tadashi Shiohama, Katsunori Fujii, Toshiyuki Miyashita, Hiromi Mizuochi, Hideki Uchikawa, Naoki Shimojo
Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Although cerebellar enlargement occurs in ptch1 heterozygous-deficient mice, its impact on human brain development remains unknown. We investigated the brain morphological characteristics of children with NBCCS...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#3
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
March 16, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28316926/apert-syndrome-with-s252w-fgfr2-mutation-and-characterization-using-phenomizer-an-indian-case-report
#4
Fulesh Kunwar, Shikha Tewari, Sonal R Bakshi
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28286253/chiari-i-malformation-in-a-child-with-pten-hamartoma-tumor-syndrome-association-or-coincidence
#5
Veronica Saletti, Silvia Esposito, Angelo Maccaro, Sabrina Giglio, Laura Grazia Valentini, Luisa Chiapparini
PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28281424/a-review-of-patients-with-glutaric-aciduria-type-1-at-inkosi-albert-luthuli-central-hospital-durban-south-africa
#6
R Govender, A Mitha, L Mubaiwa
Glutaric aciduria type 1 (GA1) is an organic acidaemia. The objective of this study was to describe the profile of patients diagnosed with GA1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa from 2007 to 2015. We identified 6 children (4 girls, 2 boys) in a retrospective review. The mean age at diagnosis was 12 months. Clinical findings on presentation were encephalopathic crises (n=4), hypotonia (n=4) and macrocephaly (n=5). Other complications included seizures (n=4), dystonia (n=3) and bulbar dysfunction (n=4)...
February 27, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28266014/snord116-deletions-cause-prader-willi-syndrome-with-a-mild-phenotype-and-macrocephaly
#7
Paolo Fontana, Marina Grasso, Fabio Acquaviva, Elena Gennaro, Maria Laura Galli, Mariateresa Falco, Francesca Scarano, Gioacchino Scarano, Fortunato Lonardo
Prader-Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader-Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the SNORD116 cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion usually is not detected by the classic DNA methylation analysis test. We present the case of a male patient with a mild Prader-Willi phenotype and a small deletion including SNORD116, diagnosed by methylation-sensitive MLPA...
March 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28254233/perinatal-imaging-findings-and-molecular-genetic-analysis-of%C3%A2-thanatophoric-dysplasia-type-1-in-a-fetus-with-a-c-2419t-g-p-ter807gly-x807g-mutation-in-fgfr3
#8
Shin-Wen Chen, Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Pei-Chen Wu, Yen-Ni Chen, Chen-Ju Lin, Wen-Ling Chen, Wayseen Wang
OBJECTIVE: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. CASE REPORT: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound examination revealed a narrow chest, shortened and curved long limbs, protrusion of the abdomen, and macrocephaly. A tentative diagnosis of TD1 was made. After genetic counseling, the pregnancy was terminated and a malformed fetus was delivered...
February 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28251007/a-pediatric-case-of-cowden-syndrome-with-graves-disease
#9
Cláudia Patraquim, Vera Fernandes, Sofia Martins, Ana Antunes, Olinda Marques, José Luís Carvalho, Jorge Correia-Pinto, Carla Meireles, Ana Margarida Ferreira
Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28237457/does-macrocephaly-require-mri-ct-ultrasound-or-a-tape-measure
#10
Paul G Fisher
No abstract text is available yet for this article.
March 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28195509/reduced-subarachnoid-fluid-diffusion-in-enlarged-subarachnoid-spaces-of-infancy
#11
Matthew T Whitehead, Bonmyong Lee, Audrey McCarron, Stanley T Fricke, Gilbert Vezina
Background and purpose Enlargement of the subarachnoid spaces in infancy (ESSI) is a common cause of macrocephaly without proven explanation. We have observed subarachnoid diffusion to be decreased in these patients. We aim to quantify the diffusivity of ventricular and subarachnoid cerebrospinal fluid in ESSI patients, to determine if diffusion characteristics deviate from normocephalic infants, and to propose a unique mechanism for ESSI. Materials and methods 227 consecutive brain magnetic resonance exams from different macrocephalic children were retrospectively reviewed after institutional review board waiver...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28150585/the-first-slovak-legius-syndrome-patient-carrying-the-spred1-gene-mutation
#12
Martina Sekelska, Lenka Briatkova, Tomas Olcak, Anna Bolcekova, Denisa Ilencikova, Ludevit Kadasi, Andrea Zatkova
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c...
February 2, 2017: General Physiology and Biophysics
https://www.readbyqxmd.com/read/28126652/a-de-novo-mutation-in-the-x-linked-pak3-gene-is-the-underlying-cause-of-intellectual-disability-and-macrocephaly-in-monozygotic-twins
#13
Jozef Hertecant, Makanko Komara, Aslam Nagi, Olfat Al-Zaabi, Waseem Fathallah, Hong Cui, Yaping Yang, Christine M Eng, Mohammad Al Sorkhy, Mohammad A Ghattas, Lihadh Al-Gazali, Bassam R Ali
Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then mediates a variety of cellular processes. So far, mutations in PAK3 gene have been reported in few families affected with intellectual disability associated with neurological manifestations such as speech defect, behavioral problem, brain structural abnormalities, microcephaly and cerebral palsy...
April 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28118382/integrative-variation-analysis-reveals-that-a-complex-genotype-may-specify-phenotype-in-siblings-with-syndromic-autism-spectrum-disorder
#14
Viviane Neri de Souza Reis, João Paulo Kitajima, Ana Carolina Tahira, Ana Cecília Feio-Dos-Santos, Rodrigo Ambrósio Fock, Bianca Cristina Garcia Lisboa, Sérgio Nery Simões, Ana C V Krepischi, Carla Rosenberg, Naila Cristina Lourenço, Maria Rita Passos-Bueno, Helena Brentani
It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparative genomic hybridization (aCGH) and exome sequencing, together with systems genetics and network analyses, are being used as tools for the study of complex disorders of unknown etiology, especially those characterized by significant genetic and phenotypic heterogeneity. Therefore, to characterize the complex genotype-phenotype relationship, we performed aCGH and sequenced the exomes of two affected siblings with ASD symptoms, dysmorphic features, and intellectual disability, searching for de novo CNVs, as well as for de novo and rare inherited point variations-single nucleotide variants (SNVs) or small insertions and deletions (indels)-with probable functional impacts...
2017: PloS One
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#15
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#16
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28018470/megalencephaly-capillary-malformation-polymicrogyria-syndrome-the-first-case-report-in-korea
#17
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27964749/truncating-de-novo-mutations-in-the-kr%C3%A3-ppel-type-zinc-finger-gene-znf148-in-patients-with-corpus-callosum-defects-developmental-delay-short-stature-and-dysmorphisms
#18
Servi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, Abdallah F Elias, Jaclyn A Haven, Stefan H Lelieveld, Rolph Pfundt, Willy M Nillesen, Helger G Yntema, Kees van Roozendaal, Alexander P Stegmann, Christian Gilissen, Han G Brunner
BACKGROUND: Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors. Only few ZNF genes are currently linked to human disorders and identification of ZNF gene-associated human diseases may help understand their function...
December 13, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27889061/biallelic-mutations-in-mitf-cause-coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-and-deafness
#19
Aman George, Dina J Zand, Robert B Hufnagel, Ruchi Sharma, Yuri V Sergeev, Janet M Legare, Gregory M Rice, Jessica A Scott Schwoerer, Mariana Rius, Laura Tetri, David M Gamm, Kapil Bharti, Brian P Brooks
Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27873293/supraorbital-keyhole-microsurgical-fenestration-of-symptomatic-temporal-arachnoid-cysts-in-children-advantages-and-limitations
#20
Sherif Elkheshin, Ahmed Soliman
AIM: To investigate the impact of endoscope assisted microsurgical fenestration of temporal arachnoid cysts, the advantages and limitations of the technique. MATERIAL AND METHODS: Retrospective study including twenty five children of symptomatic temporal arachnoid cysts operated via Eyebrow Supra-Orbital Keyhole Microsurgical Fenestration targeting medial cyst wall, Preoperative MRI brain was done for all patients. RESULTS: Preoperative, clinical presentation included headache (80%), nausea & vomiting (64%), drug resistant epilepsy (52%), macrocephaly (12%) papilledema (28%) motor weakness in the form of right sided hemiparesis (12%) and cranial nerve palsy...
October 14, 2016: Turkish Neurosurgery
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