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European Journal of Medical Genetics

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https://www.readbyqxmd.com/read/28185953/a-novel-smad3-mutation-caused-multiple-aneurysms-in-a-patient-without-osteoarthritis-symptoms
#1
Audrey Courtois, Wouter Coppieters, Vincent Bours, Jean-Olivier Defraigne, Alain Colige, Natzi Sakalihasan
Heterozygous mutations in the SMAD3 gene were recently described as the cause of a form of non-syndromic familial aortic thoracic aneurysm and dissection (FTAAD) transmitted as an autosomal dominant disorder and often associated with early-onset osteoarthritis. This new clinical entity, called aneurysms-osteoarthritis syndrome (AOS) or Loeys-Dietz syndrome 3 (LDS3), is characterized by aggressive arterial damages such as aneurysms, dissections and tortuosity throughout the arterial tree. We report, here, the case of a 45 year-old man presenting multiple visceral arteries and abdominal aortic aneurysms but without dissection of the thoracic aorta and without any sign of osteoarthritis...
February 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28159702/a-case-of-feingold-type-2-syndrome-associated-with-keratoconus-refines-keratoconus-type-7-locus-on-chromosome-13q
#2
Fabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, Enrico Grosso, Patrizia Pappi, Flavia Talarico, Elisa Savin, Simona Cavalieri, Elisa Giorgio, Cecilia Mancini, Barbara Pasini, Jodhbir S Mehta, Alfredo Brusco
We report on a 58-year old woman with microcephaly, mild dysmorphic features, bilateral keratoconus, digital abnormalities, short stature and mild cognitive delay. Except for keratoconus, the phenotype was suggestive for Feingold syndrome type 2 (FGLDS2, MIM 614326), a rare autosomal dominant disorder described in six patients worldwide, due to the haploinsufficiency of MIR17HG, a micro RNA encoding gene. Karyotype showed a de novo deletion on chromosome 13q, further defined by array-Comparative Genomic Hybridization (a-CGH) to a 17...
January 31, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28159701/reassessment-of-the-12q15-deletion-syndrome-critical-region
#3
Alesi Viola, Loddo Sara, Grispo Marta, Riccio Simona, Montella Andrea Costantino, Dallapiccola Bruno, Ulgheri Lucia, Novelli Antonio
Interstitial deletions of the long arm of chromosome 12 are rare and only few cases have been reported in literature so far, with different phenotypic features related to size and gene content of deleted regions. Five patients reported a 12q15-q21 deletion, sharing a 1.3 Mb small region of overlap (SRO) and presenting with developmental delay, nasal speech and mild dysmorphic features. We identified by microarray analysis a new case of 12q15 deletion. Our patient clinical features allow the refinement of the SRO to CNOT2, KCNMB4, and PTPRB genes, improving genotype-phenotype correlations...
January 31, 2017: European Journal of Medical Genetics
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
#4
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...
January 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28126651/ocular-dermoid-in-pai-syndrome-a-review
#5
LETTER
Peter Tormey, Iva Bilic, Michael A Boyle
Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp...
January 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28119110/attitudes-toward-prenatal-genetic-testing-and-therapeutic-termination-of-pregnancy-among-parents-of-offspring-with-prader-willi-syndrome
#6
REVIEW
Noa Even-Zohar Gross, Talia Geva-Eldar, Yehuda Pollak, Harry J Hirsch, Itai Gross, Varda Gross-Tsur
INTRODUCTION: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. OBJECTIVE: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus...
January 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28111185/novel-frem1-mutations-in-a-patient-with-mota-syndrome-clinical-findings-mutation-update-and-review-of-frem1-related-disorders-literature
#7
REVIEW
Oscar F Chacon-Camacho, Martin Zenker, Denny Schanze, Jasbeth Ledesma-Gil, Juan C Zenteno
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28111184/lrp5-linked-osteoporosis-pseudoglioma-syndrome-mimicking-isolated-microphthalmia
#8
Sezen Guntekin Ergun, Guvem Gumus Akay, Mehmet Ali Ergun, E Ferda Perçin
Microphthalmia is defined as the measurement of the total axial length of the eyeball to be below average of the two standard deviation according to the age. While several genes have been identified so far related to microphthalmia, the genetic etiology of the disease has not been fully understood because of genetic heterogeneity observed in this disease. After exclusion of the genes that had been known to be the cause of microphthalmia, we performed homozygosity mapping and exome sequencing to clarify the genetic etiology of the bilateral microphthalmia in this family...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28111183/brachydactyly-type-e-in-an-italian-family-with-6p25-trisomy
#9
Paolo Fontana, Cristina Tortora, Roberta Petillo, Michela Malacarne, Simona Cavani, Martina Miniero, Paola D'Ambrosio, Davide De Brasi, Maria Antonietta Pisanti
Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28089742/multiple-habp2-variants-in-familial-papillary-thyroid-carcinoma-contribution-of-a-group-of-thyroid-checked-controls
#10
Benjamin Kern, Lucie Coppin, Pauline Romanet, Michel Crépin, Isabelle Szuster, Florence Renaud, Emmanuelle Leteurtre, Frédéric Frénois, Jean-Louis Wemeau, Bruno Carnaille, Catherine Cardot-Bauters, Christine Do Cao, Pascal Pigny
A heterozygous germline variant in the HABP2 gene c.1601G > A (p.Gly534Glu), which negatively impacts its tumor suppressive activity in vitro, has been described in 4-14% of kindreds of European-American ancestry with familial papillary thyroid carcinoma (fPTC). But it is also found in ≈4% of Europeans and European/Americans from public databases that, however, did not provide information on the thyroid function of the controls. To get unbiased results, we decided to compare HABP2 genotypes of patients with fPTC with those of "thyroid-checked" controls...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28089741/inflammatory-myopathy-in-a-patient-with-aicardi-gouti%C3%A3-res-syndrome
#11
Birutė Tumienė, Norine Voisin, Eglė Preikšaitienė, Donatas Petroška, Jurgita Grikinienė, Rūta Samaitienė, Algirdas Utkus, Alexandre Reymond, Vaidutis Kučinskas
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28087401/how-the-eucerd-joint-action-supported-initiatives-on-rare-diseases
#12
REVIEW
Stephen Lynn, Victoria Hedley, Antonio Atalaia, Teresinha Evangelista, Kate Bushby
Joint Actions are successful initiatives from the European Commission (EC) that have helped to raise awareness and to bring significant benefit to those suffering from a rare disease (RD). In this paper, we will focus on the activities developed by the EUCERD Joint Action (EJA) and by the Orphanet Joint Action ("Orphanet Europe"). EUCERD Joint Action was co-funded by the EC and the Member States between 2012 and 2015 to help to define the activities and policies in the field of RD and foster exchange of experiences amongst Member States...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28027978/in-silico-analysis-for-predicting-pathogenicity-of-five-unclassified-mitochondrial-dna-mutations-associated-with-mitochondrial-cytopathies-phenotypes
#13
Mafalda Bacalhau, João Pratas, Marta Simões, Cândida Mendes, Carolina Ribeiro, Maria J Santos, Luísa Diogo, Maria Carmo Macário, Manuela Grazina
Mitochondrial DNA (mtDNA) mutations have been assigned as a major cause of genetic disease. When a novel sequence variation is found, it is necessary to evaluate its functional impact, usually requiring functional molecular studies. Given the fact that this approach is difficult to put in practice in a routine basis, it is possible to take advantage of the in silico tools available and predict protein/RNA structure changes and therefore pathogenicity. Here, we describe the characterization of five undescribed mtDNA variants, upon detection of 23 unclassified alterations at Laboratory of Biochemical Genetics, from 2004 to 2014...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28027977/cleidocranial-dysplasia-clinical-endocrinologic-and-molecular-findings-in-15-patients-from-11-families
#14
Firdevs Dinçsoy Bir, Nuriye Dinçkan, Yeliz Güven, Firdevs Baş, Umut Altunoğlu, Senem S Kuvvetli, Şükran Poyrazoğlu, Güven Toksoy, Hülya Kayserili, Z Oya Uyguner
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28017902/a-severe-pulmonary-complication-in-a-patient-with-col4a1-related-disorder-a-case-report
#15
Yoshiichi Abe, Atsuko Matsuduka, Kazuo Okanari, Hiroaki Miyahara, Mitsuhiro Kato, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Maeda Tomoki, Kenji Ihara
Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart. The involvement of organs mainly depends on the expression of the COL4A1 gene. Complication or dysfunction of the alveolar tissue has not been reported in the literature on COL4A1 mutation-related disorders. We herein report the case of a boy with schizencephaly, renovascular hypertension, and retinal arteriosclerosis of unknown origin, who suffered from severe and repetitive alveolar hemorrhage at 9 years of age...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28007608/16p13-microduplication-without-crebbp-involvement-moving-toward-a-phenotype-delineation
#16
Claudia Ciaccio, Arianna Tucci, Giulietta Scuvera, Margherita Estienne, Susanna Esposito, Donatella Milani
The short arm of chromosome 16 is one of the less stable regions of our genome, as over 10% of the euchromatic region of 16p is composed of highly complex low copy repeats that are known to be predisposed to rearrangements mediated by non-allelic homologous recombination. The 16p13.3p13.13 molecular region has been defined as the 16p duplication hotspot, and duplications of chromosome 16p13 have recently been confirmed to cause a recognizable syndrome, with CREBBP being the main phenotype-causing gene. To date, only one case report is present in the literature with a 16p13 duplication without CREBBP involvement; we describe here a second analogous case with a not previously reported 16p13...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27956278/the-m694i-m694i-genotype-a-genetic-risk-factor-of-aa-amyloidosis-in-a-group-of-algerian-patients-with-familial-mediterranean-fever
#17
Djouher Ait-Idir, Bahia Djerdjouri, Faiza Bouldjennet, Rowaida Z Taha, Hatem El-Shanti, Rawda Sari-Hamidou, Ghalia Khellaf, Mustapha Benmansour, Mohamed Benabadji, Farid Haddoum
Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end-stage renal disease in untreated patients. The data about the renal AA-amyloidosis secondary to FMF are scarce in North African countries and non-existent in Algeria. We aimed to investigate the MEFV mutations associated with this complication in an Algerian patient cohort...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27965001/calcifying-nested-stromal-epithelial-tumor-cnset-of-the-liver-in-beckwith-wiedemann-syndrome
#18
REVIEW
Nasim Khoshnam, Haynes Robinson, Michael R Clay, Lauren R Schaffer, Scott E Gillespie, Bahig M Shehata
Calcifying nested stromal-epithelial tumor (CNSET) is a rare neoplasm. In the 31 reported cases, CNSET is predominantly found in young girls and women. Beckwith-Wiedemann syndrome (BWS) (OMIM #130650) is an overgrowth syndrome with an increased risk to develop cancer. Associations have been seen between BWS and embryonal tumors, especially Wilms tumor, hepatoblastoma, and adrenocortical carcinoma. Here we report on a female patient with BWS who presented with CNSET. Two other cases with the same association have been reported, with our case representing the third such reported in the literature...
February 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27939946/stargardt-disease-associated-mutation-spectrum-of-a-russian-federation-cohort
#19
Inna V Zolnikova, Vladimir V Strelnikov, Natalia A Skvortsova, Alexander S Tanas, Debmalya Barh, Elena V Rogatina, Irina V Egorova, Darja V Levina, Olga N Demenkova, Egor G Prikaziuk, Marianna E Ivanova
ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups. We found ABCA4 variations in 70.5% cases and one case with BEST1 variation...
February 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27915094/clinical-features-associated-with-ctnnb1-de-novo-loss-of-function-mutations-in-ten-individuals
#20
Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Clayton Smith, John Burn, Usha Kini, Anna De Burca, David R FitzPatrick, Esther Kinning
Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these...
February 2017: European Journal of Medical Genetics
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