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https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#1
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28003643/kaufman-oculo-cerebro-facial-syndrome-in-a-child-with-small-and-absent-terminal-phalanges-and-absent-nails
#2
Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27994178/application-of-high-resolution-snp-arrays-in-patients-with-congenital-oral-clefts-in-south-china
#3
Ting-Ying Lei, Hong-Tao Wang, Fan Li, Ying-Qiu Cui, Fang Fu, Ru Li, Can Liao
Chromosome microarray analysis (CMA) has proven to be a powerful tool in postnatal patients with intellectual disabilities. However, the diagnostic capability of CMA in patients with congenital oral clefts remain mysterious. Here, we present our clinical experience in implementing whole-genome high-resolution SNP arrays to investigate 33 patients with syndromic and nonsyndromic oral clefts in whom standard karyotyping analyses showed normal karyotypes. We aim to identify the genomic aetiology and candidate genes in patients with congenital oral clefts...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#4
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27811305/ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis
#5
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
BACKGROUND: Deletions in the Xq22.3-Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early speech and language delay and midface hypoplasia with submucous cleft palate and bifid uvula...
November 3, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27714920/familial-gordon-syndrome-associated-with-a-piezo2-mutation
#6
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27668670/health-status-among-adults-born-with-an-oral-cleft-in-norway
#7
Erik Berg, Øystein A Haaland, Kristin B Feragen, Charles Filip, Hallvard A Vindenes, Dag Moster, Rolv T Lie, Åse Sivertsen
Importance: Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. Objective: To assess whether oral clefts affect the health and ability to work of young adults. Design, Setting, and Participants: A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860)...
November 1, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27650623/first-korean-patients-with-craniofrontonasal-syndrome-confirmed-by-efnb1-analysis
#8
Hani Yoo, Jung Min Ko, Byung Chan Lim, Hae Il Cheong
Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder with variable clinical phenotypes, including brachycephaly, hypertelorism, and a bifid nasal tip. Moreover, longitudinal splittings of the nails and skeletal abnormalities may accompany this condition. CFNS is inherited in an X-linked dominant manner; however, affected heterozygous females exhibit additional and more severe manifestations compared with affected hemizygous males, paradoxically. Here, we report for the first time in Korea two girls with molecularly confirmed CFNS...
September 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27459995/deletion-21q22-3-and-duplication-7q35q36-3-in-a-colombian-girl-a-case-report
#9
Felipe Ruiz-Botero, Harry Pachajoa
BACKGROUND: Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %...
July 27, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27409069/increased-bone-turnover-osteoporosis-progressive-tibial-bowing-fractures-and-scoliosis-in-a-patient-with-a-final-exon-satb2-frameshift-mutation
#10
Philip M Boone, Yiu Man Chan, Jill V Hunter, Louis E Pottkotter, Nelson A Davino, Yaping Yang, Joke Beuten, Carlos A Bacino
Haploinsufficiency of SATB2 causes cleft palate, intellectual disability with deficient speech, facial and dental abnormalities, and other variable features known collectively as SATB2-associated syndrome. This phenotype was accompanied by osteoporosis, fractures, and tibial bowing in two previously reported adult patients; each possessed SATB2 mutations either predicted or demonstrated to escape nonsense-mediated decay, suggesting that the additional bone defects result from a dominant negative effect and/or age-dependent penetrance...
July 13, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27354242/oro-dental-features-of-pallister-killian-syndrome-evaluation-of-21-european-probands
#11
Simone Bagattoni, Giovanni D'Alessandro, Agnese Sadotti, Nadia Alkhamis, Alessandro Rocca, Guido Cocchi, Ian David Krantz, Gabriela Piana
Pallister-Killian syndrome (PKS) is a rare sporadic multi-systemic developmental disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. A wide range of clinical characteristics including intellectual disability, seizures, and congenital malformations has previously been described. Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly rotated ears. Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported in the medical literature...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27225850/de-novo-meis2-mutation-causes-syndromic-developmental-delay-with-persistent-gastro-esophageal-reflux
#12
Atsushi Fujita, Bertrand Isidor, Hugues Piloquet, Pierre Corre, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux and constipation...
September 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27151206/kcnk9-imprinting-syndrome-further-delineation-of-a-possible-treatable-disorder
#13
John M Graham, Neda Zadeh, Melissa Kelley, Ee Shien Tan, Wendy Liew, Victoria Tan, Matthew A Deardorff, Golder N Wilson, Lena Sagi-Dain, Stavit A Shalev
Patients with KCNK9 imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding problems. Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. This disorder maps to chromosomal region 8q24, and it is caused by a specific missense mutation 770G>A in exon 2, replacing glycine at position 236 by arginine (G236R) in the maternal copy of KCNK9 within this locus...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27102954/autosomal-recessive-mutations-in-thoc6-cause-intellectual-disability-syndrome-delineation-requiring-forward-and-reverse-phenotyping
#14
J S Amos, L Huang, J Thevenon, A Kariminedjad, C L Beaulieu, A Masurel-Paulet, H Najmabadi, Z Fattahi, M Beheshtian, S H Tonekaboni, S Tang, K L Helbig, W Alcaraz, J-B Rivière, L Faivre, A M Innes, R R Lebel, K M Boycott
THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was reported in association with syndromic intellectual disability. Using exome sequencing, we identified three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features...
January 2017: Clinical Genetics
https://www.readbyqxmd.com/read/26900403/complex-intrachromosomal-rearrangement-in-1q-leading-to-1q32-2-microdeletion-a-potential-role-of-srgap2-in-the-gyrification-of-cerebral-cortex
#15
Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr, Lukrecija Brecevic
BACKGROUND: Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is characterized by significant limitations, both in intellectual functioning (cognitive deficit) and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Karyotyping has been the first standard test for the detection of genetic imbalance in patients with ID for more than 35 years...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26833328/de-novo-loss-of-function-mutations-in-usp9x-cause-a-female-specific-recognizable-syndrome-with-developmental-delay-and-congenital-malformations
#16
Margot R F Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M Mancini, Rolph Pfundt, Ka Man Wu, Conny M A van Ravenswaaij-Arts, Hermine E Veenstra-Knol, Britt-Marie M Anderlid, Stephen A Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M Marcelis, Maaike Vreeburg, Emma Hobson, V Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Hwei Meeng Lai, Deepti Domingo, Bruno Reversade, Jozef Gecz, Christian Gilissen, Han G Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities...
February 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/26637975/mutations-in-either-tubb-or-mapre2-cause-circumferential-skin-creases-kunze-type
#17
Mala Isrie, Martin Breuss, Guoling Tian, Andi Harley Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karaca, Nicholas Katsanis, Valeria Marton, Joris Robert Vermeesch, Erica E Davis, Nicholas J Cowan, David Anthony Keays, Hilde Van Esch
Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short stature, and dysmorphic features. Here, we report that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a β-tubulin isotype that is expressed abundantly in the developing brain...
December 3, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/26596517/satb2-associated-syndrome-presenting-with-rett-like-phenotypes
#18
J S Lee, Y Yoo, B C Lim, K J Kim, M Choi, J-H Chae
The SATB2-associated syndrome (SAS) was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole-exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p...
June 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26349184/a-female-patient-with-duplication-of-7p13-pter-associated-with-del-20p13pter-resulting-from-malsegregated-paternal-7-20-balanced-translocation
#19
M O Eid, M M Eid, A K Kamel, M El-Ruby, G M H Abdel-Salam
Duplication of the short arm of chromosome 7 is a genomic disorder presenting with distinctive facies including hypertelorism, large anterior fontanel, and intellectual disability. A 2½-year-old Egyptian girl was referred because of cleft palate and dysmorphic features. She showed clinical manifestations of duplication of 7p, along with atypical features of corpus callosum hypogenesis and skeletal anomalies. Chromosome analyses revealed unbalanced translocations involving the short arms of chromosomes 7 and 20 due to malsegregation of a paternal balanced translocation 7;20...
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26334553/6q22-33-microdeletion-in-a-family-with-intellectual-disability-variable-major-anomalies-and-behavioral-abnormalities
#20
Luisa Mackenroth, Karl Hackmann, Anke Beyer, Jens Schallner, Barbara Novotna, Barbara Klink, Evelin Schröck, Nataliya Di Donato
Interstitial deletions on the long arm of chromosome six have been described for several regions including 6q16, 6q22.1, and 6q21q22.1, and with variable phenotypes such as intellectual disability/developmental delay, growth retardation, major and minor facial anomalies. However, an isolated microdeletion of the sub-band 6q22.33 has not been reported so far and thus, no information about the specific phenotype associated with such a copy number variant is available. Here, we define the clinical picture of an isolated 6q22...
November 2015: American Journal of Medical Genetics. Part A
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