journal
https://read.qxmd.com/read/33224018/clonazepam-as-an-effective-treatment-for-epilepsy-in-a-female-patient-with-nexmif-mutation-case-report
#1
Masashi Ogasawara, Eiji Nakagawa, Eri Takeshita, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masayuki Sasaki
The NEXMIF ( KIAA2022 ) gene is located in the X chromosome, and hemizygous mutations in NEXMIF cause X-linked intellectual disability in male patients. Female patients with heterozygous mutations in NEXMIF also show similar, but milder, intellectual disability. Most female patients demonstrate intractable epilepsy compared with male patients, and the treatment strategy for epilepsy is still uncertain. Thus far, 24 female patients with NEXMIF mutations have been reported. Of these 24 patients, 20 also have epilepsy...
November 2020: Molecular Syndromology
https://read.qxmd.com/read/33224017/first-infertile-case-with-cstf2t-gene-mutation
#2
Ozlem Gorukmez, Orhan Gorukmez
Male infertility is multifactorial and presents with heterogeneous phenotypic features. Genetic factors are responsible for up to 15% of the male infertility cases. Loss of the Cstf2t gene in male mice results in infertility. No disease-associated mutations have been described for this gene in infertile men. Here, we report a patient diagnosed with infertility in whom a homozygous nonsense mutation in the CSTF2T gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous CSTF2T mutation...
November 2020: Molecular Syndromology
https://read.qxmd.com/read/33224016/intrauterine-growth-restriction-and-hypertrophic-cardiomyopathy-as-prenatal-ultrasound-findings-in-a-case-of-leprechaunism
#3
Kevin Perge, Mona Massoud, Hélène Gauthier-Moulinier, Olivier Lascols, Nicolas Pangaud, Carine Villanueva, Linda Pons
Donohue syndrome (leprechaunism; OMIM *246200) is a rare and often lethal autosomal recessive disease caused by mutations in the INSR gene. We report the case of a 29-year-old pregnant woman, primigravida, who was referred at 33 weeks of gestation for severe intrauterine growth restriction (IUGR). Ultrasound examination found severe IUGR associated with an obstructive hypertrophic cardiomyopathy (HCM), confirmed postnatally. The newborn's blood glucose level fluctuated from fasting hypoglycemia to postprandial hyperglycemia...
November 2020: Molecular Syndromology
https://read.qxmd.com/read/33224015/a-case-of-ring-chromosome-18-with-single-umbilical-artery-detected-during-prenatal-period
#4
Nazan Eras
Fetuses with a single umbilical artery have a risk of increased chromosomal anomalies and congenital malformations. Ring chromosomes are rare and the phenotypic and clinical characteristics of affected individuals show great variability depending on the quantity of the lost critical genes or gains during the formation of the ring or due to mitotic instability. Ring chromosome 18 [r(18)] is characterized by short stature, craniofacial dysmorphism, mental and motor retardation, autoimmune disorders, extremity anomalies, dermal lesions, structural heart malformations, and kidney abnormalities...
November 2020: Molecular Syndromology
https://read.qxmd.com/read/33224014/hyperinsulinemic-hypoglycemia-in-a-patient-with-costello-syndrome-an-etiology-to-consider-in-hypoglycemia
#5
Dogus Vuralli, Can Kosukcu, Ekim Taskiran, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Koray Boduroglu, Ayfer Alikasifoglu, Mehmet Alikasifoglu
Several endocrine disorders have been defined in patients with Costello syndrome (CS). In this report, we describe a patient with CS accompanied by a clinical picture of hyperinsulinemic hypoglycemia responsive to diazoxide treatment. A 41-day-old female patient with a birth weight of 3,600 g was referred for atypical facial features and swallowing dysfunction. She had a weight of 4,000 g (-0.8 SDS), a length of 50 cm (-2.4 SDS), and a head circumference of 38 cm (0.2 SDS). The clinical findings were suggestive of a genetic syndrome, mainly a RASopathy or Beckwith-Wiedemann syndrome...
November 2020: Molecular Syndromology
https://read.qxmd.com/read/33224013/application-of-chromosome-microarray-analysis-in-the-investigation-of-developmental-disabilities-and-congenital-anomalies-single-center-experience-and-review-of-nrxn3-and-nedd4l-deletions
#6
Alper Han Çebi, Şule Altıner
Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wide identification of copy number variations (CNVs). In our study, we performed a retrospective study on clinical and microarray data of 237 patients with developmental disabilities and/or multiple congenital anomalies and investigated the clinical utility of CMA...
November 2020: Molecular Syndromology
https://read.qxmd.com/read/33224012/clinical-and-molecular-characterization-of-fanconi-anemia-patients-in-turkey
#7
Güven Toksoy, Dilek Uludağ Alkaya, Gülendam Bagirova, Şahin Avcı, Agharza Aghayev, Nilay Günes, Umut Altunoğlu, Yasemin Alanay, Seher Başaran, Ezgi G Berkay, Birsen Karaman, Tiraje T Celkan, Hilmi Apak, Hülya Kayserili, Beyhan Tüysüz, Zehra O Uyguner
Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular findings of 20 distinct FA cases, ages ranging from perinatal stage to 32 years, are presented here. Pathogenic variants in FANCA were found responsible in 75%, FANCC, FANCE, FANCJ / BRIP1, FANCL in 5%, and FANCD1 / BRCA2 and FANCN / PALB2 in 2...
November 2020: Molecular Syndromology
https://read.qxmd.com/read/33224011/fanconi-anemia-a-syndrome-of-anemia-and-skeletal-malformations-progressing-to-a-gene-network-involved-in-genomic-stability-and-malignant-disease
#8
EDITORIAL
Martin Poot
No abstract text is available yet for this article.
November 2020: Molecular Syndromology
https://read.qxmd.com/read/32903985/coffin-siris-syndrome-4-related-spectrum-in-a-young-woman-caused-by-a-heterozygous-smarca4-deletion-detected-by-high-resolution-acgh
#9
Anastasios Mitrakos, Leandros Lazaros, Amelia Pantou, Ariadni Mavrou, Emmanuel Kanavakis, Maria Tzetis
Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the SMARCA4 gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Here, we report a young woman with developmental delay, moderate intellectual disability, and bilateral sensorineural hearing loss, referred for genetic testing. High-resolution chromosomal microarray analysis identified a 428-kb deletion in chromosome 19 which included the SMARCA4 gene...
July 2020: Molecular Syndromology
https://read.qxmd.com/read/32903920/identification-of-a-novel-arginine-vasopressin-receptor-2-mutation-p-v183m-in-a-chinese-family-with-nephrogenic-diabetes-insipidus
#10
Ji-Shi Liu, Hao Huang, Jie-Yuan Jin, Ran Du, Chen-Yu Wang, Liang-Liang Fan
Loss of function of arginine vasopressin receptor 2 (AVPR2) may affect the recognition and binding of arginine vasopressin (AVP) which, in turn, may prevent the activation of Gs/adenylate cyclase and reduce the reabsorption of water by renal tubules and combined tubes. Finally, the organism may suffer from nephrogenic diabetes insipidus (NDI), a kind of kidney disorder featured by polyuria and polydipsia, due to a break of water homeostasis. In this study, we enrolled a Chinese family with polyuria and polydipsia...
July 2020: Molecular Syndromology
https://read.qxmd.com/read/32903913/renpenning-syndrome-in-a-turkish-patient-de-novo-variant-c-607c-t-in-pacs1-and-hypogammaglobulinemia-phenotype
#11
Fatma Kurt Colak, Nilnur Eyerci, Caner Aytekin, Ayse S Eksioglu
Renpenning syndrome is an X-linked intellectual disability syndrome caused by mutations in the human polyglutamine binding protein 1 ( PQBP1 ) gene characterized by intellectual disability (ID), microcephaly, and dysmorphic facial features. We report a Turkish child with a novel pathogenic variant in PQBP1 and a likely pathogenic variant in the PACS1 gene presenting with growth restriction, microcephaly, ID, micropenis, bilateral iris coloboma, and hypogammaglobulinemia. Cytogenetic investigations, including a high-resolution-banded karyotype, were normal...
July 2020: Molecular Syndromology
https://read.qxmd.com/read/32903878/a-novel-de-novo-frameshift-mutation-in-the-bcl11a-gene-in-a-patient-with-intellectual-disability-syndrome-and-epilepsy
#12
Georg Christoph Korenke, Björn Schulte, Saskia Biskup, John Neidhardt, Marta Owczarek-Lipska
Intellectual disability syndrome (IDS) associated with a hereditary persistence of fetal haemoglobin (HbF), also known as Dias-Logan syndrome, is commonly characterised by psychomotor developmental delay, intelectual disability, language delay, strabismus, thin upper lip, abnormalities of external ears, microcephaly, downslanting palpebral fissures. Sporadically, autism spectrum disorders and blue sclerae in infancy have been reported in IDS. Rarely, IDS-affected patients present with epilepsy and/or epileptic syndromes...
July 2020: Molecular Syndromology
https://read.qxmd.com/read/32903844/seizures-and-cardiomyopathy-in-a-patient-with-pallister-killian-syndrome-due-to-hexasomy-12p-mosaicism
#13
Reha M Toydemir, Emanuele Panza, Maria C Longhurst, Sarah T South, Alan F Rope
Pallister-Killian syndrome (PKS) is a rare disorder presenting with developmental delay, numerous dysmorphic features, and skin pigmentation anomalies. It is caused by mosaic tetrasomy of the short arm of chromosome 12. In most instances, tetrasomy is due to a supernumerary isochromosome i(12)(p10). Although mitotic instability is a generally accepted behavior for supernumerary chromosomes, hexasomy 12p due to a gain of an isochromosome 12p, has been hardly ever reported. We report a 10 year follow-up on a girl with 2 copies of isochromosome consisting of the short arm of chromosome 12, who has craniofacial features seen in PKS, such as sparse hair with an unusual pattern, sparse eyebrows, lacrimal duct stenosis, submucous cleft palate, Pallister lip (a relatively long philtrum continuing into the vermillion border of the upper lip), narrow palate, and wide alveolar ridges...
July 2020: Molecular Syndromology
https://read.qxmd.com/read/32903739/22q13-microduplication-syndrome-in-siblings-with-mild-clinical-phenotype-broadening-the-clinical-and-behavioral-spectrum
#14
Anikó Ujfalusi, Orsolya Nagy, Beáta Bessenyei, Györgyi Lente, Irén Kántor, Ádám J Borbély, Katalin Szakszon
Distal duplication 22q (22q13.3qter) is a rare condition with only 24 cases described so far. Parental balanced reciprocal translocations and pericentric inversions involving chromosome 22 predispose to the conception of an unbalanced offspring and are more frequently reported than de novo events. The clinical phenotype of patients is highly variable and does not necessarily correlate with the extent of the duplicated segment. Short stature, microcephaly, hypertelorism, cleft lip or palate, low-set ears, and intellectual disability seem to be the most consistent features...
July 2020: Molecular Syndromology
https://read.qxmd.com/read/32655343/a-novel-col3a1-c-2644g-t-p-gly882cys-variant-in-a-turkish-family-with-vascular-ehlers-danlos-syndrome
#15
Ömer Aydıner, Veysel S Hançer
Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 with EDS type IV representing approximately 5-10% of the cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. vEDS diagnosis is a challenging process. Patients usually have different phenotypic features and are unaware of the diagnosis at the time of initial vascular complications...
June 2020: Molecular Syndromology
https://read.qxmd.com/read/32655342/new-compound-heterozygous-splice-site-mutations-of-the-skeletal-muscle-ryanodine-receptor-ryr1-gene-manifest-fetal-akinesia-a-linkage-with-congenital-myopathies
#16
Nebojsa Zecevic, Vladimir Arsenijevic, Emmanouil Manolakos, Ioannis Papoulidis, Georgios Theocharis, Anastasios Sartsidis, Tryfon Tsagas, Ioannis Tziotis, Themistoklis Dagklis, Georgios Kalogeros, Ioannis Tsakiridis, Milica Filipovic Stankovic, Makarios Eleftheriades
Mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene have been linked to malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. RYR1 is an intracellular calcium release channel and plays a crucial role in the sarcoplasmic reticulum and transverse tubule connection. Here, we report 2 fetuses from the same parents with compound heterozygous mutations in the RYR1 gene (c.10347+1G>A and c.10456-2Α>G) who presented with fetal akinesia and polyhydramnios at 27 and 19 weeks of gestation with intrauterine growth restriction in the third pregnancy...
June 2020: Molecular Syndromology
https://read.qxmd.com/read/32655341/three-offspring-with-cri-du-chat-syndrome-from-phenotypically-normal-parents
#17
Dilek U Alkaya, Birsen Karaman, Beyhan Tüysüz
Cri-du-chat syndrome is characterized by facial dysmorphism, intellectual disability, and multiple congenital anomalies. Most cases occur de novo. Here, we report 3 siblings with cri-du-chat syndrome born to healthy parents. The proband was admitted to our clinic at the age of 6.5 years due to severe intellectual disability, facial dysmorphism, and heart defect. His karyotype showed a deletion of chromosome 5p. Microarray analysis revealed a 29-Mb deletion in chromosome 5p and a 4.7-Mb duplication in chromosome 19q...
June 2020: Molecular Syndromology
https://read.qxmd.com/read/32655340/two-novel-variants-and-one-previously-reported-variant-in-the-insulin-receptor-gene-in-two-cases-with-severe-insulin-resistance-syndrome
#18
Aydilek Dagdeviren Cakir, Said Saidov, Hande Turan, Serdar Ceylaner, Yavuz Özer, Tufan Kutlu, Oya Ercan, Olcay Evliyaoglu
Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) are rare diseases caused by biallelic variants within the insulin receptor gene ( INSR ). Here, we report 2 cases: one with DS and the other with RMS. The case with DS presented with intrauterine growth retardation, nipple hypertrophy, clitoromegaly, distended abdomen, hypertrichosis, and dysmorphic features. The second case showed severe acanthosis nigricans, hyperkeratosis, and hypertrichosis. In both cases, abnormal glucose homeostasis due to severe insulin resistance was observed...
June 2020: Molecular Syndromology
https://read.qxmd.com/read/32655339/novel-clinical-and-radiological-findings-in-a-family-with-autosomal-recessive-omodysplasia
#19
Allan Bayat, Morton Dunø, Maria Kirchhoff, Finn S Jørgensen, Gen Nishimura, Hanne B Hove
Autosomal recessive omodysplasia ( GPC6 -related) is a rare short-limb skeletal dysplasia caused by biallelic mutations in the GPC6 gene. Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower limbs are severely affected. These manifestations contrast with normal height and limb shortening restricted to the arms in autosomal dominant omodysplasia ( FZD2 -related). Here, we report 2 affected brothers of Pakistani descent from Denmark with GPC6 -related omodysplasia, aiming to highlight the clinical and radiological findings...
June 2020: Molecular Syndromology
https://read.qxmd.com/read/32655338/diagnosis-of-bloom-syndrome-in-a-patient-with-short-stature-recurrence-of-malignant-lymphoma-and-consanguineous-origin
#20
Jakub Trizuljak, Terezie Petruchová, Ivona Blaháková, Zuzana Vrzalová, Věra Hořínová, Martina Doubková, Jozef Michalka, Jiří Mayer, Šárka Pospíšilová, Michael Doubek
Bloom syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early-onset cancer and development of multiple malignancies. Loss-of-function variants of the BLM gene, which codes for a RecQ helicase, cause Bloom syndrome. We report a consanguineous family, with 2 siblings showing clinical signs of suspected chromosome breakage disorder. One of them developed recurrent malignant lymphoma during lifetime...
June 2020: Molecular Syndromology
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