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Developmental delay AND whole exome sequencing

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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
#1
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...
September 13, 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
#2
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
#3
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
#4
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
#5
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
#6
Sonia Majed 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-year-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 KCNJ10 gene that encodes for the inwardly-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...
July 26, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#7
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariëtte J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability, and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#8
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#9
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28686357/homozygous-null-variant-in-cradd-encoding-an-adaptor-protein-that-mediates-apoptosis-is-associated-with-lissencephaly
#10
Tamar Harel, Nuphar Hacohen, Avraham Shaag, Moshe Gomori, Amihood Singer, Orly Elpeleg, Vardiella Meiner
Lissencephaly is a severe malformation of cortical development, most often attributed to abnormalities in neuronal migration. It is associated with a severe prognosis including developmental delay, intellectual disability, and seizures. Lissencephaly can be reliably diagnosed during late gestation by neurosonography or fetal magnetic resonance imaging (MRI). We report two sibling male fetuses who were diagnosed with delayed cortical sulcation highly suggestive of lissencephaly during late pregnancy. After receiving genetic counseling, the parents elected to terminate the pregnancies based on the neuroradiological findings and the associated severe prognosis...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#11
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28624958/whole-exome-sequencing-identified-compound-heterozygous-variants-in-mmks-in-a-chinese-pedigree-with-bardet-biedl-syndrome
#12
Zhan Qi, Ying Shen, Qian Fu, Wei Li, Wei Yang, Wenshan Xu, Ping Chu, Yaxin Zhang, Hui Wang
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants (c...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#13
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28588001/successful-growth-hormone-therapy-in-cornelia-de-lange-syndrome
#14
Michael de Graaf, Sarina G Kant, Jan Maarten Wit, Egbert Johan Willem Redeker, Gijs Willem Eduard Santen, Annemieke Johanna Maria Henriëtta Verkerk, André Gerardus Uitterlinden, Monique Losekoot, Wilma Oostdijk
Cornelia de Lange Syndrome (CdLS) is a heterogeneous syndrome, both clinically and genetically, in its classical form characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the Cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge there are no reports on the effect of recombinant human GH (r-hGH) treatment in CdLS patients...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28579975/the-eight-and-a-half-year-journey-of-undiagnosed-ad-gene-sequencing-and-funding-of-advanced-genetic-testing-has-led-to-hope-and-new-beginnings
#15
Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden, Jacob A Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions. METHODS: Longitudinal clinical and parental reports...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#16
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28556953/novel-biallelic-szt2-mutations-in-three-cases-of-early-onset-epileptic-encephalopathy
#17
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/28554332/genomic-diagnosis-for-children-with-intellectual-disability-and-or-developmental-delay
#18
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray, Whitley V Kelley, Neil E Lamb, Edward J Lose, Carla A Rich, Shirley Simmons, Jana S Whittle, Benjamin T Weaver, Amy S Nesmith, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
BACKGROUND: Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. METHODS: Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected). RESULTS: Pathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11...
May 30, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#19
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
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
#20
E Alharby, A M Albalawi, A Nasir, S A Alhijji, A Mahmood, K Ramzan, F Abdusamad, A Aljohani, O Abdelsalam, A Eldardear, S 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
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