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Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).
Zhang Y, Lin Y, Zhang Y, Wang Y, Li Z, Zhu Y, Liu H, Ju W, Cui C, Chen M. Zhang Y, et al. Heart Rhythm. 2022 Mar;19(3):466-475. doi: 10.1016/j.hrthm.2021.11.022. Epub 2021 Nov 20. Heart Rhythm. 2022. PMID: 34808346
OBJECTIVE: The purpose of this study was to characterize the atrial phenotypes and possible mechanisms in a large Chinese family with heart-hand syndrome carrying a LMNA missense variant in rod 2B domain (c.1003C>T p.R335W). ...Adult zebrafish expressing m …
OBJECTIVE: The purpose of this study was to characterize the atrial phenotypes and possible mechanisms in a large Chinese family with hea …
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome).
Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE. Basson CT, et al. N Engl J Med. 1994 Mar 31;330(13):885-91. doi: 10.1056/NEJM199403313301302. N Engl J Med. 1994. PMID: 8114858 Free article.
Genetic analyses demonstrated linkage of the disease in each family to polymorphic loci on the long arm of chromosome 12 (combined multipoint lod score, 16.8). These data suggest odds greater than 10(16):1 that the genetic defect for Holt-Oram syndrome is present on the lo …
Genetic analyses demonstrated linkage of the disease in each family to polymorphic loci on the long arm of chromosome 12 (combined multipoin …
Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.
Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ, Willner JP. Gelb BD, et al. Am J Med Genet. 1999 Nov 19;87(2):175-9. doi: 10.1002/(sici)1096-8628(19991119)87:2<175::aid-ajmg9>3.0.co;2-#. Am J Med Genet. 1999. PMID: 10533032
The association between cardiac and limb defects, particularly those affecting the hand, has been well documented by the delineation of several heart-hand syndromes. Based on observations with a three-generation family with seven affected individuals, we describe a novel …
The association between cardiac and limb defects, particularly those affecting the hand, has been well documented by the delineation of seve …
A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.
Zhao F, Bosserhoff AK, Buettner R, Moser M. Zhao F, et al. PLoS One. 2011;6(7):e22908. doi: 10.1371/journal.pone.0022908. Epub 2011 Jul 29. PLoS One. 2011. PMID: 21829553 Free PMC article.
Loss of Tfap2b results in altered Bmp expression that may cause the heart-limb defects observed in Tfap2b mouse mutants and Char syndrome patients. The Tfap2b knockout mouse may add to the very limited available animal models of PDA....
Loss of Tfap2b results in altered Bmp expression that may cause the heart-limb defects observed in Tfap2b mouse mutants and Char synd …
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Veugelers M, et al. N Engl J Med. 2004 Jul 29;351(5):460-9. doi: 10.1056/NEJMoa040584. N Engl J Med. 2004. PMID: 15282353 Free article.
RESULTS: Clinical evaluations demonstrated that the Carney complex cosegregated with the trismus-pseudocamptodactyly syndrome in Family 1, and genetic analyses demonstrated linkage of the disease to chromosome 17p12-p13.1 (maximum multipoint lod score, 4.39). Sequence anal …
RESULTS: Clinical evaluations demonstrated that the Carney complex cosegregated with the trismus-pseudocamptodactyly syndrome in Family 1, a …
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A. Le Meur N, et al. Am J Med Genet A. 2005 May 1;134(4):439-42. doi: 10.1002/ajmg.a.30660. Am J Med Genet A. 2005. PMID: 15810003
Holt-Oram syndrome, the major "heart-hand" syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. ...This is the second report of a chromosome 14 interstitial deletion associated with clinical features of Ho …
Holt-Oram syndrome, the major "heart-hand" syndrome is defined by the association of radial defects or triphalangeal th …