The Experts below are selected from a list of 324 Experts worldwide ranked by ideXlab platform
Yun Bai - One of the best experts on this subject based on the ideXlab platform.
-
Confirmation of genetic homogeneity of Syndactyly type IV and triphalangeal thumb–polySyndactyly syndrome in a Chinese family and review of the literature
European journal of pediatrics, 2013Co-Authors: Limeng Dai, Hong Guo, Hui Meng, Kun Zhang, Hong Yao, Yun BaiAbstract:Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous Syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb–polySyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and Syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with Syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb. Conclusion: This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.
-
confirmation of genetic homogeneity of Syndactyly type iv and triphalangeal thumb polySyndactyly syndrome in a chinese family and review of the literature
European Journal of Pediatrics, 2013Co-Authors: Limeng Dai, Hong Guo, Hui Meng, Kun Zhang, Hong Yao, Yun BaiAbstract:Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous Syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb–polySyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and Syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with Syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb. Conclusion: This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.
Sajid Malik - One of the best experts on this subject based on the ideXlab platform.
-
Syndactyly: phenotypes, genetics and current classification
European Journal of Human Genetics, 2012Co-Authors: Sajid MalikAbstract:Syndactyly is one of the most common hereditary limb malformations depicting the fusion of certain fingers and/or toes. It may occur as an isolated entity or a component of more than 300 syndromic anomalies. Syndactylies exhibit great inter- and intra-familial clinical variability. Even within a subject, phenotype can be unilateral or bilateral and symmetrical or asymmetrical. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the Syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described. Whereas the underlying genes/mutations for types II-1, III, IV, V, and VII have been worked out, the etiology and molecular basis of the other Syndactyly types remain unknown. In this communication, based on an overview of well-characterized isolated syndactylies, their cardinal phenotypes, inheritance patterns, and clinical and genetic heterogeneities, a ‘current classification scheme’ is presented. Despite considerable progress in the understanding of Syndactyly at clinical and molecular levels, fundamental questions regarding the disturbed developmental mechanisms leading to fused digits, remain to be answered.
-
a novel type of autosomal recessive Syndactyly clinical and molecular studies in a family of pakistani origin
American Journal of Medical Genetics Part A, 2004Co-Authors: Wasim Ahmad, Sajid Malik, Muhammad Arshad, Muhammad Aminuddin, Frank Oeffner, Astrid Dempfle, Sayedul Haque, Manuela C Koch, Karlheinz GrzeschikAbstract:Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz Syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive Syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz Syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic Syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I Syndactyly. Since the clinical features in our family had minimal overlap with Syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for Syndactyly types I, II, and III.
Cord Drogemuller - One of the best experts on this subject based on the ideXlab platform.
-
congenital Syndactyly in cattle four novel mutations in the low density lipoprotein receptor related protein 4 gene lrp4
BMC Genetics, 2007Co-Authors: Cord Drogemuller, Tosso Leeb, B Harlizius, Imke Tammen, Ottmar Distl, M Holtershinken, Arcangelo Gentile, Amandine DuchesneAbstract:Isolated Syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of Syndactyly in the Holstein and Angus cattle breeds. We confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families. We confirmed a significant role of LRP4 mutations in the pathogenesis of congenital Syndactyly in cattle. The newly detected missense mutations in the LRP4 gene represent independent mutations affecting different conserved protein domains. However, the four newly described LRP4 mutations do still not explain all analyzed cases of Syndactyly.
-
Congenital Syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)
BMC Genetics, 2007Co-Authors: Cord Drogemuller, Amandine Duchesne, Tosso Leeb, B Harlizius, Imke Tammen, Ottmar Distl, M Holtershinken, Arcangelo Gentile, Andre EggenAbstract:Background: Isolated Syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of Syndactyly in the Holstein and Angus cattle breeds. Results: We confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families. Conclusion: We confirmed a significant role of LRP4 mutations in the pathogenesis of congenital Syndactyly in cattle. The newly detected missense mutations in the LRP4 gene represent independent mutations affecting different conserved protein domains. However, the four newly described LRP4 mutations do still not explain all analyzed cases of Syndactyly.
You Yang - One of the best experts on this subject based on the ideXlab platform.
-
sub exome target sequencing in a family with Syndactyly type iv due to a novel partial duplication of the lmbr1 gene first case report in fujian province of china
Frontiers in Genetics, 2020Co-Authors: Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You YangAbstract:Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant Syndactyly type IV (SD4) is a very rare form of Syndactyly, occurring as a result of heterozygous mutation in an SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene on chromosome 7q36.3. The SD4 is characterized by complete cutaneous Syndactyly of all fingers, cup-shaped hands due to flexion of the fingers and accompanied by polydactyly. Here, we firstly reported a big Chinese family from Fujian Province, manifesting cup-shaped hands consistent with SD4 and intrafamilial heterogeneity in clinical phenotype of tibial and fibulal shortening, triphalangeal thumb-polySyndactyly syndrome (TPTPS). Genetically, we identified a novel duplication of ∼222.23 kb covering exons 2-17 of the LMBR1 gene in this family by sub-exome target sequencing. This case expands our new clinical understanding of SD4 phenotype and again confirmed its feasibility to detect copy number variation by sub-exome target sequencing.
-
a familial case of Syndactyly type iv due to a novel duplication of 222 23 kb covering exons 2 17 of the lmbr1 gene a case report
bioRxiv, 2018Co-Authors: Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You YangAbstract:Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant Syndactyly type IV (SD4) is a very rare form of Syndactyly, occurring as a result of heterozygous mutation in an SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene on chromosome 7q36.3. The SD4 is characterized by complete cutaneous Syndactyly of all fingers, cup-shaped hands due to flexion of the fingers and accompanied by polydactyly. Here, we firstly reported a big Chinese family, manifesting cup-shaped hands consistent with SD4 and intrafamilial heterogeneity in clinical phenotype of tibial and fibulal shortening, triphalangeal thumb-polySyndactyly syndrome (TPTPS). Genetically, we identified a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene in this family by next generation sequencing. This case expands our new clinical understanding of SD4 phenotype.
Limeng Dai - One of the best experts on this subject based on the ideXlab platform.
-
Confirmation of genetic homogeneity of Syndactyly type IV and triphalangeal thumb–polySyndactyly syndrome in a Chinese family and review of the literature
European journal of pediatrics, 2013Co-Authors: Limeng Dai, Hong Guo, Hui Meng, Kun Zhang, Hong Yao, Yun BaiAbstract:Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous Syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb–polySyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and Syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with Syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb. Conclusion: This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.
-
confirmation of genetic homogeneity of Syndactyly type iv and triphalangeal thumb polySyndactyly syndrome in a chinese family and review of the literature
European Journal of Pediatrics, 2013Co-Authors: Limeng Dai, Hong Guo, Hui Meng, Kun Zhang, Hong Yao, Yun BaiAbstract:Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous Syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb–polySyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and Syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with Syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb. Conclusion: This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.
