共查询到20条相似文献,搜索用时 15 毫秒
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Bjrn Menten Karen Buysse Nicole Maas Bernard Thienpont Jo Vandesompele Cindy Melotte Thomy de Ravel Steven Van Vooren Irina Balikova Liesbeth Backx Sandra Janssens Anne De Paepe Bart De Moor Yves Moreau Peter Marynen Jean-Pierre Fryns Geert Mortier Koen Devriendt Joris Vermeesch Frank Speleman 《European journal of medical genetics》2005,48(4):445-446
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Rachael Natrajan Richard Williams Sandra Hing Suzanne Little Alan Mackay Jorge Reis-Filho Kerry Fenwick Marjan Iravani Haukur Valgeirsson Anita Grigoriadis Cordelia Langford Oliver Dovey Simon Gregory Barbara Weber Alan Ashworth Paul Grundy Kathy Pritchard-Jones Chris Jones 《European journal of medical genetics》2005,48(4):507-508
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M Badura‐Stronka A Jamsheer A Materna‐Kiryluk A Sowińska K Kiryluk B Budny A Latos‐Bieleńska 《Clinical genetics》2010,77(2):141-144
Badura‐Stronka M, Jamsheer A, Materna‐Kiryluk A, Sowińska A, Kiryluk K, Budny B, Latos‐Bieleńska A. A novel nonsense mutation in CUL4B gene in three brothers with X‐linked mental retardation syndrome. Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X‐linked mental retardation (XLMR) caused by mutations in the CUL4B gene. In total, nine XLMR families carrying mutations in the CUL4B gene have been described to date. Here, we present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A→T, p.703K→X) in exon 18 of the CUL4B gene. The mutation was inherited from an asymptomatic mother and was present in all three affected brothers. The patients presented with typical features of Cabezas syndrome, such as severe mental retardation, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism. In addition to previously described symptoms, syndactyly of the second and third toes and skin manifestations (hyperhydrosis and keratosis pilaris) were present in our cases. Our report provides further support that Cabezas syndrome is a recognizable syndromic form of XLMR. We conclude that the CUL4B gene should be screened in males with severe speech impairment and primary intention tremor, especially if characteristic facial dysmorphism is also present. 相似文献
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4.7 Mb deletion encompassing TGFB2 associated with features of Loeys–Dietz syndrome and osteoporosis in adulthood 下载免费PDF全文
Harald Gaspar Bernd Lutz Kerstin Reicherter Simon Lühl Rita Taurman Heinz Gabriel Rolf E. Brenner Guntram Borck 《American journal of medical genetics. Part A》2017,173(8):2289-2292
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Kleefstra T Koolen DA Nillesen WM de Leeuw N Hamel BC Veltman JA Sistermans EA van Bokhoven H van Ravenswaay C de Vries BB 《American journal of medical genetics. Part A》2006,140(6):618-623
In a female patient with mild mental retardation an interstitial subtelomeric 9q34.3 deletion was identified by a multiplex ligation-dependent probe amplification (MLPA) based screen for subtelomeric abnormalities. Further characterization of the deletion by high-resolution tiling path array-based comparative genomic hybridization (array CGH) revealed a size of 2.2 Mb. The woman lacked the typical 9qter deletion phenotype characteristics, which is inline with the finding that both Eu-HMTase1 (EHMT) genes were present. However, she presented with mild mental retardation, some mild facial dysmorphisms and aplasia cutis. This is another example of an interstitial subtelomeric deletion, which underscores that further characterizing the precise nature of the deletion is of clinical importance. Moreover, it confirms the importance of the Eu-HMTase1 gene as the major causative factor of the classical 9qter syndrome phenotype. 相似文献