The Experts below are selected from a list of 2988 Experts worldwide ranked by ideXlab platform
D Garciacruz - One of the best experts on this subject based on the ideXlab platform.
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split hand Malformation hypospadias microphthalmia distinctive face and short stature in two brothers suggest a new syndrome
American Journal of Medical Genetics Part A, 2005Co-Authors: Jose E Garciaortiz, Felipe Bandaespinoza, Juan C Zenteno, Luz M Galvanuriarte, Pablo Ruizflores, D GarciacruzAbstract:Split hand/foot Malformation (SHFM) is a genetically heterogeneous Limb Malformation that may be isolated or associated with other Malformations. More than 50 recognizable entities with SHFM have been described and at least 5 mapped genetic loci have been implicated. Two brothers with intrauterine growth retardation, short stature, distinctive face, microphthalmia, genital anomalies, and SHFM are described. Molecular analyses of TP63, HOXA13, and HOXD13 genes were normal. We propose this pattern to be a newly recognized SHFM syndrome. © 2005 Wiley-Liss, Inc.
György Kosztolányi - One of the best experts on this subject based on the ideXlab platform.
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A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.
Archives of dermatology, 2005Co-Authors: Richard Kellermayer, H. Annika Siitonen, Kinga Hadzsiev, Marjo Kestilä, György KosztolányiAbstract:Background Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and Limb Malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma—a hallmark of RTS—has been described as generally absent in RAPADILINO syndrome. Observations We report herein a patient with RTS who carries a truncating mutation and a newly identified missense mutation of RECQL4 . The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. Conclusions Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.
Alain Verloes - One of the best experts on this subject based on the ideXlab platform.
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clinical utility gene card for rothmund thomson syndrome
European Journal of Human Genetics, 2013Co-Authors: Lidia Larizza, Gaia Roversi, Alain VerloesAbstract:1.5 Mutational spectrum Biallelic mutations in the RECQL4 gene are associated with Rothmund–Thomson (RTS) and two additional recessive disorders: RAPADILINO (RAdial hypoplasia, PAtellae hypoplasia and cleft or arched PAlate, DIarrhea and DIslocated joints, LIttle size and Limb Malformation, slender NOse and NOrmal intelligence) and Baller– Gerold syndrome (BGS). More than 60 disease-causing mutations have been reported, of which at least 40 have been detected in RTS patients.1,2 The types of observed mutations are as follows, in order of decreasing prevalence: nonsense or frameshift mutations; splicing alterations, including substitutions at canonical splice junctions or at splice-site consensus sequences and subtle intronic deletions that reduce intron size below the threshold (o80 bp) required for correct splicing;3,4 and missense mutations. There are a few recurrent mutations, among which the most common, exon 9 c.1573delT (p.Cys525AlafsX33), has been detected in patients with all three RECQL4-associated diseases. This truncating mutation accounts for approximately one-third of RTS mutations and has only been found in compound heterozygous patients from multiple ethnic backgrounds. A deletion of the entire gene has never been identified.
Charles W Richard - One of the best experts on this subject based on the ideXlab platform.
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fine mapping of the split hand split foot locus shfm3 at 10q24 evidence for anticipation and segregation distortion
American Journal of Human Genetics, 1999Co-Authors: Rýdvan S Ozen, Bora E Baysal, Bernie Devlin, Joan E Farr, Michael C Gorry, Garth D Ehrlich, Charles W RichardAbstract:Summary Split-hand/split-foot Malformation (SHFM, ectrodactyly, or lobster-claw deformity) is a human Limb Malformation characterized by aberrant development of central digital rays with absence of fingers and toes, a deep median cleft, and fusion of remaining digits. SHFM is clinically heterogeneous, presenting both in an isolated form and in combination with additional abnormalities affecting the tibia and/or other organ systems, including the genitourinary, craniofacial, and ectodermal structures. Three SHFM disease loci have been genetically mapped to chromosomes 7q21 ( SHFM1 ), Xq26 ( SHFM2 ), and 10q24 ( SHFM3 ). We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an ∼2-cM critical interval between genetic markers D10S1147 and D10S1240. In several instances we found evidence for a more severe phenotype in offspring of a mildly affected parent, suggesting anticipation. Finally, data from this family, combined with those from six other pedigrees, mapped to 10q24, demonstrate biased transmission of SHFM3 alleles from affected fathers to offspring. The degree of this segregation distortion is obvious in male offspring and is possibly of the same magnitude for female offspring.
Richard Kellermayer - One of the best experts on this subject based on the ideXlab platform.
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A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.
Archives of dermatology, 2005Co-Authors: Richard Kellermayer, H. Annika Siitonen, Kinga Hadzsiev, Marjo Kestilä, György KosztolányiAbstract:Background Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and Limb Malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma—a hallmark of RTS—has been described as generally absent in RAPADILINO syndrome. Observations We report herein a patient with RTS who carries a truncating mutation and a newly identified missense mutation of RECQL4 . The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. Conclusions Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.