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Developmental delay AND whole exome sequencing

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https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#1
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#2
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#3
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29100095/mutations-in-gpaa1-encoding-a-gpi-transamidase-complex-protein-cause-developmental-delay-epilepsy-cerebellar-atrophy-and-osteopenia
#4
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St-Denis, Guoliang Chai, Norbert F Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry-Kravis, Fan Xia, Jessica Tardif, David A Parry, Clare V Logan, Christine Diggle, Christopher P Bennett, Louise Hattingh, Jill A Rosenfeld, Michael Scott Perry, Michael J Parker, Françoise Le Deist, Maha S Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J Carroll, Colin A Johnson, Joseph G Gleeson, Taroh Kinoshita, Philippe M Campeau
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively)...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29096665/genotype-phenotype-correlations-and-expansion-of-the-molecular-spectrum-of-ap4m1-related-hereditary-spastic-paraplegia
#5
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B Singleton, Georgia Xiromerisiou
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. METHODS: We investigated a Greek HSP family using whole exome sequencing (WES). RESULTS: A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R); the unaffected parents were carriers of only one variant...
November 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29096607/hypotonia-and-intellectual-disability-without-dysmorphic-features-in-a-patient-with-pign-related-disease
#6
Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A Brodsky, Carol Saunders
BACKGROUND: Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes including multiple congenital anomalies, dysmorphic faces, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGN, encoding phosphatidylinositol-glycan biosynthesis class N have been recently associated with multiple congenital anomalies hypotonia seizure syndrome...
November 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29075935/novel-gfm2-variants-associated-with-early-onset-neurological-presentations-of-mitochondrial-disease-and-impaired-expression-of-oxphos-subunits
#7
Ruth I C Glasgow, Kyle Thompson, Inês A Barbosa, Langping He, Charlotte L Alston, Charu Deshpande, Michael A Simpson, Andrew A M Morris, Axel Neu, Ulrike Löbel, Julie Hall, Holger Prokisch, Tobias B Haack, Maja Hempel, Robert McFarland, Robert W Taylor
Mitochondrial diseases are characterised by clinical, molecular and functional heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage of mitochondrial translation. We present here two unrelated patients harbouring different and previously unreported compound heterozygous (c.569G>A, p.(Arg190Gln); c.636delA, p.(Glu213Argfs*3)) and homozygous (c.275A>C, p.(Tyr92Ser)) recessive variants in GFM2 identified by whole exome sequencing (WES) together with histochemical and biochemical findings to support the diagnoses of pathological GFM2 variants in each case...
October 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29066118/a-de-novo-p-arg756cys-mutation-in-atp1a3-causes-a-distinct-phenotype-with-prolonged-weakness-and-encephalopathy-triggered-by-fever
#8
Yuji Nakamura, Ayako Hattori, Mitsuko Nakashima, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Naoki Ando, Naomichi Matsumoto, Shinji Saitoh
Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required to correlate clinical features with a mutation at Arg756. Here we report an additional case with an Arg756Cys mutation in ATP1A3. A four-year-old boy showed mild developmental delay with recurrent paroxysmal episodes of weakness and encephalopathy from nine months of age...
October 21, 2017: Brain & Development
https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#9
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clin Nephrol Case Stud
https://www.readbyqxmd.com/read/28969374/biallelic-mutations-in-the-homeodomain-of-nkx6-2-underlie-a-severe-hypomyelinating-leukodystrophy
#10
Imen Dorboz, Chiara Aiello, Cas Simons, Robert Thompson Stone, Marcello Niceta, Monique Elmaleh, Mohammad Abuawad, Diane Doummar, Alessandro Bruselles, Nicole I Wolf, Lorena Travaglini, Odile Boespflug-Tanguy, Marco Tartaglia, Adeline Vanderver, Diana Rodriguez, Enrico Bertini
Hypomyelinating leukodystrophies are genetically heterogeneous disorders with overlapping clinical and neuroimaging features reflecting variable abnormalities in myelin formation. We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a transcription factor regulating multiple developmental processes with a main role in oligodendrocyte differentiation and regulation of myelin-specific gene expression, as the cause underlying a previously unrecognized severe variant of hypomyelinating leukodystrophy...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28967461/clinical-manifestations-associated-with-the-n-terminal-acetyltransferase-naa10-gene-mutation-in-a-girl-ogden-syndrome
#11
Mandeep Sidhu, Lauren Brady, Mark Tarnopolsky, Gabriel M Ronen
BACKGROUND: Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias. PATIENT DESCRIPTION: We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy...
July 19, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28963436/novel-nr2f1-variants-likely-disrupt-dna-binding-molecular-modeling-in-two-cases-review-of-published-cases-genotype-phenotype-correlation-and-phenotypic-expansion-of-the-bosch-boonstra-schaaf-optic-atrophy-syndrome
#12
Charu Kaiwar, Michael T Zimmerman, Matthew J Ferber, Zhiyv Niu, Raul A Urrutia, Eric W Klee, Dusica Babovic-Vuksanovic
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1 The first is a 14-year-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on CSF testing...
September 28, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28944577/de-novo-mutations-in-hnrnpu-result-in-a-neurodevelopmental-syndrome
#13
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, Deirdre E Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian
Exome sequencing in the context of developmental disorders is a useful technique, but variants found need to be interpreted in the context of detailed phenotypic information. Whole gene deletions and loss-of-function-mutations in the HNRNPU gene have been associated with intellectual disability and seizures in some patients. However, a unifying syndromic phenotype has not been previously elucidated. Here, we report a total of seven patients (six patients identified through the Wellcome Trust Deciphering Developmental Disorders study, with one additional patient), who have heterozygous de novo mutations in HNRNPU...
September 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28941020/loss-of-function-variants-in-nfia-provide-further-support-that-nfia-is-a-critical-gene-in-1p32-p31-deletion-syndrome-a-four-patient-series
#14
Anya Revah-Politi, Mythily Ganapathi, Louise Bier, Megan T Cho, David B Goldstein, Parisa Hemati, Alejandro Iglesias, Jane Juusola, John Pappas, Slavé Petrovski, Ashley L Wilson, Vimla S Aggarwal, Kwame Anyane-Yeboa
The association between 1p32-p31 contiguous gene deletions and a distinct phenotype that includes anomalies of the corpus callosum, ventriculomegaly, developmental delay, seizures, and dysmorphic features has been long recognized and described. Recently, the observation of overlapping phenotypes in patients with chromosome translocations that disrupt NFIA (Nuclear factor I/A), a gene within this deleted region, and NFIA intragenic deletions has led to the hypothesis that NFIA is a critical gene within this region...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28900819/a-homozygous-pigo-mutation-associated-with-severe-infantile-epileptic-encephalopathy-and-corpus-callosum-hypoplasia-but-normal-alkaline-phosphatase-levels
#15
Yoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, Yonatan Sapir, Luci Zalman, Ilana Chervinsky, Markus Schuelke, Rachel Straussberg, Ronen Spiegel
We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy...
December 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28893434/biallelic-mutations-in-szt2-cause-a-discernible-clinical-entity-with-epilepsy-developmental-delay-macrocephaly-and-a-dysmorphic-corpus-callosum
#16
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Yoko Kuroki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Takao Togawa, Ayako Hattori, Seiji Kojima, Shinji Saitoh
Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum...
September 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#17
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#18
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28752220/a-patient-with-mitochondrial-disorder-due-to-a-novel-mutation-in-mrps22
#19
Mustafa Kılıç, Kader-Karli Oğuz, Esra Kılıç, Deniz Yüksel, Hüseyin Demirci, Mahmut Şamil Sağıroğlu, Didem Yücel-Yılmaz, Rıza Köksal Özgül
MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hypertrophic cardiomyopathy and tubulopathy which differ from other majority of reported patients. Therefore, hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22...
July 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28747464/lethal-digenic-mutations-in-the-k-channels-kir4-1-kcnj10-and-slack-kcnt1-associated-with-severe-disabling-seizures-and-neurodevelopmental-delay
#20
Sonia Hasan, Ameera Balobaid, Alessandro Grottesi, Omar Dabbagh, Marta Cenciarini, Rifaat Rawashdeh, Afaf Al-Sagheir, Cecilia Bove, Lara Macchioni, Mauro Pessia, Mohammed Al-Owain, Maria Cristina D'Adamo
A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient. Targeted and whole exome sequencing revealed two heterozygous missense variants: a novel mutation in the KCNJ10 gene that encodes for the inward-rectifying K(+) channel Kir4.1 and another previously characterized mutation in KCNT1 that encodes for the Na(+)-activated K(+) channel known as Slo2.2 or SLACK. The objectives of this study were to perform the clinical and genetic characterization of the proband and his family and to examine the functional consequence of the Kir4...
October 1, 2017: Journal of Neurophysiology
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