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Global developmental delay

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https://www.readbyqxmd.com/read/28542722/a-homozygous-potentially-pathogenic-variant-in-the-paxbp1-gene-in-a-large-family-with-global-developmental-delay-and-myopathic-hypotonia
#1
Essa Alharby, Alia M Albalawi, Abdul Nasir, Sabri A Alhijji, Amer Mahmood, Khushnooda Ramzan, Firoz Abdusamad, Abdulkarim Aljohani, Osama Abdelsalam, Amr Eldardear, Sulman Basit
PAX binding protein 1 (PAXBP1) is an adaptor protein linking the transcription factor PAX3 and PAX7 to the histone methylation machinery. PAXBP1 is a nuclear protein and its high expression is known in brain cerebellar hemisphere and cerebellum. Moreover, it is also found in abundance in muscle precursor cells that are involved in myogenesis and skeletal muscles formation. Whole genome SNP genotyping and exome sequencing in a family with distinct syndrome of global developmental delay and hypotonia mapped the disease locus to the chromosome 21q22...
May 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28515796/genetic-heterogeneity-of-patients-with-suspected-silver-russell-syndrome-genome-wide-copy-number-analysis-in-82-patients-without-imprinting-defects
#2
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#3
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28512024/repurposing-of-proton-pump-inhibitors-as-first-identified-small-molecule-inhibitors-of-endo-%C3%AE-n-acetylglucosaminidase-engase-for-the-treatment-of-ngly1-deficiency-a-rare-genetic-disease
#4
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan
N-Glycanase deficiency, or NGLY1 deficiency, is an extremely rare human genetic disease. N-Glycanase, encoded by the gene NGLY1, is an important enzyme involved in protein deglycosylation of misfolded proteins. Deglycosylation of misfolded proteins precedes the endoplasmic reticulum (ER)-associated degradation (ERAD) process. NGLY1 patients produce little or no N-glycanase (Ngly1), and the symptoms include global developmental delay, frequent seizures, complex hyperkinetic movement disorder, difficulty in swallowing/aspiration, liver dysfunction, and a lack of tears...
May 5, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28504504/-cornelia-de-lange-syndrome-and-multiple-hormonal-deficiency-an-unusual-association-clinical-case
#5
Víctor M Mora-Bautista, Víctor Mendoza-Rojas, Gustavo A Contreras-García
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28496994/novel-causative-variants-in-dyrk1a-kars-and-kat6a-associated-with-intellectual-disability-and-additional-phenotypic-features
#6
Clark R Murray, Samantha N Abel, Matthew B McClure, Joseph Foster, Maria I Walke, Parul Jayakar, Guney Bademci, Mustafa Tekin
Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative variants in DYRK1A, KARS, or KAT6A in four individuals with global developmental delay and various findings including microcephaly and sensorineural hearing loss using whole exome sequencing. We present the cognitive, neurologic, and physical findings of four individuals to expand the clinical knowledge of possible features of the phenotypes of three rare genetic disorders...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28491196/cerebral-palsy-and-seizures-in-a-child-with-tubulinopathy-pattern-dysgenesis-and-focal-cortical-dysplasia
#7
Kevin M Sweet, Dennis W W Shaw, Teresa Chapman
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal. The patient's family sought neurodevelopmental pediatric care at a new institution following a move out of state. Electroencephalography confirmed abnormal epileptogenic activity. Brain magnetic resonance imaging showed findings consistent with a tubulin gene defect (tubulinopathy) and of focal cortical dysplasia, as well as evidence of a remote occipital lobe injury...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28490791/intact-word-processing-in-developmental-prosopagnosia
#8
Edwin J Burns, Rachel J Bennetts, Sarah Bate, Victoria C Wright, Christoph T Weidemann, Jeremy J Tree
A wealth of evidence from behavioural, neuropsychological and neuroimaging research supports the view that face recognition is reliant upon a domain-specific network that does not process words. In contrast, the recent many-to-many model of visual recognition posits that brain areas involved in word and face recognition are functionally integrated. Developmental prosopagnosia (DP) is characterised by severe deficits in the recognition of faces, which the many-to-many model predicts should negatively affect word recognition...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28477417/neuropsychological-impairments-in-children-with-kcnj11-neonatal-diabetes
#9
P Bowman, A T Hattersley, B A Knight, E Broadbridge, L Pettit, M Reville, S E Flanagan, M H Shepherd, T J Ford, J Tonks
We support the findings of Carmody et al. [1], who offered new insights into the neurological phenotype of people with KCNJ11 neonatal diabetes. Neurological features result from the KATP channel affected by these mutations being expressed in the brain as well as the pancreas [2]. Previous work has characterized developmental delay associated with specific mutations, for example, V59M, known as developmental delay, epilepsy and neonatal diabetes (DEND) syndrome [3,4]. Affected individuals also have impaired visuo-motor performance [5] and psychiatric (predominantly neurodevelopmental) disorders [6]...
May 6, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28471437/the-clinical-spectrum-and-natural-history-of-early-onset-diseases-due-to-dna-polymerase-gamma-mutations
#10
Omar Hikmat, Charalampos Tzoulis, Wui K Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda J Carr, Prab Prabhakar, Nandhini Kumaraguru, Paul Gissen, J Helen Cross, Thomas S Jacques, Jan-Willem Taanman, Laurence A Bindoff, Shamima Rahman
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from the United Kingdom. Patients with age at onset <12 years and confirmed pathogenic biallelic POLG mutations were considered eligible...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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/28464511/plxna1-developmental-encephalopathy-with-syndromic-features-a-case-report-and-review-of-the-literature
#12
Kaylee Park, Laurie E Seltzer, Emily Tuttle, Ghayda M Mirzaa, Alex R Paciorkowski
Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing. This constitutes the second report of PLXNA1 sequence variation associated with early onset epilepsy, and the first to expand on the clinical features of this emerging disorder...
May 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28457518/systematic-review-of-mri-findings-in-children-with-developmental-delay-or-cognitive-impairment
#13
REVIEW
Kara Murias, Andrea Moir, Kenneth Alexis Myers, Irene Liu, Xing-Chang Wei
AIM: To summarize the reported rates of magnetic resonance imaging (MRI) abnormalities in children with isolated global developmental delay (GDD) or intellectual disability (ID). METHOD: A literature search was conducted using electronic databases for studies reporting the rate of MRI abnormalities in children with clinically diagnosed ID or GDD and no other neurological signs, symptoms, or previously determined aetiology. All investigations with participants from birth to 18years were considered...
April 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#14
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28419137/transcriptional-changes-in-litchi-litchi-chinensis-sonn-inflorescences-treated-with-uniconazole
#15
Yongzan Wei, Chen Dong, Hongna Zhang, Xuewen Zheng, Bo Shu, Shengyou Shi, Weicai Li
In Arabidopsis, treating shoots with uniconazole can result in enhanced primary root elongation and bolting delay. Uniconazole spraying has become an important cultivation technique in controlling the flowering and improving the fruit-setting of litchi. However, the mechanism by which uniconazole regulates the complicated developmental processes in litchi remains unclear. This study aimed to determine which signal pathways and genes drive the responses of litchi inflorescences to uniconazole treatment. We monitored the transcriptional activity in inflorescences after uniconazole treatment by Illumina sequencing technology...
2017: PloS One
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#16
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28399923/making-good-on-a-call-to-expand-method-choice-for-young-people-turning-rhetoric-into-reality-for-addressing-sustainable-development-goal-three
#17
Fariyal Fatma Fikree, Catharine Lane, Callie Simon, Gwyn Hainsworth, Patricia MacDonald
BACKGROUND: Investments in the nearly two billion young people, aged 10-24 years, in the world today are necessary to meet global development commitments, specifically the Sustainable Development Goals and Ending Preventable Child and Maternal Deaths. More than 12 million married and unmarried adolescents (aged 15-19) will give birth in 2016. Complications of pregnancy and childbirth are the second leading cause of death among 15-19 year-old women and early childbearing can significantly curtail social and economic prospects for young women...
April 11, 2017: Reproductive Health
https://www.readbyqxmd.com/read/28398695/social-disadvantage-and-developmental-diagnosis-in-pre-schoolers
#18
Norma Kayrouz, Susan L Milne, Jenny L McDonald
AIM: To explore the association between social disadvantage and developmental diagnoses in pre-school children. METHODS: Between 2012 and 2015, 845 pre-school children were assessed by the Child Assessment Team at Campbelltown Hospital. A social worker interviewed 469 families and these children were eligible for inclusion in the study. Autism spectrum disorder (ASD) was confirmed in 290 children. Of those without ASD, 72 did not have global developmental delay (GDD) and were excluded from the study...
April 11, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28394407/novel-case-of-paternal-paracentric-inversion-causing-partial-trisomy-13-and-review-of-the-literature
#19
Chad Douglas, Stephen A Smith, Luis Rohena
Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28386663/a-child-with-phenylketonuria-and-focal-segmental-glomerulosclerosis-the-bright-side-of-proteinuria
#20
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
April 7, 2017: Metabolic Brain Disease
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