Literature DB >> 27041388

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.

Shubha R Phadke1, Anjana Kar2,3, Aneek Das Bhowmik2, Ashwin Dalal2.   

Abstract

Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier by us in a consanguineous family. We report on identification of mutations in BHLHA9 gene in this condition. Our results indicate that Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) are likely to be allelic disorders.
© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Entities:  

Keywords:  BHLHA9; camptosynpolydactyly; exome sequencing; limb deformity; mesoaxial synostotic syndactyly; polydactyly

Mesh：

Year:  2016        PMID： 27041388     DOI： 10.1002/ajmg.a.37643

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  6 in total

1.  Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

Authors:  Ruizhi Duan; Hadia Hijazi; Elif Yilmaz Gulec; Hatice Koçak Eker; Silvia R Costa; Yavuz Sahin; Zeynep Ocak; Sedat Isikay; Ozge Ozalp; Sevcan Bozdogan; Huseyin Aslan; Nursel Elcioglu; Débora R Bertola; Alper Gezdirici; Haowei Du; Jawid M Fatih; Christopher M Grochowski; Gulsen Akay; Shalini N Jhangiani; Ender Karaca; Shen Gu; Zeynep Coban-Akdemir; Jennifer E Posey; Yavuz Bayram; V Reid Sutton; Claudia M B Carvalho; Davut Pehlivan; Richard A Gibbs; James R Lupski
Journal:  HGG Adv       Date:  2022-08-04

2.  A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family.

Authors:  Amjad Khan; Rongrong Wang; Shirui Han; Wasim Ahmad; Xue Zhang
Journal:  Hum Genome Var       Date:  2017-12-14

3.  Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Authors:  Tonia C Carter; Robert J Sicko; Denise M Kay; Marilyn L Browne; Paul A Romitti; Zoё L Edmunds; Aiyi Liu; Ruzong Fan; Charlotte M Druschel; Michele Caggana; Lawrence C Brody; James L Mills
Journal:  J Hum Genet       Date:  2017-05-25       Impact factor: 3.172

Review 4.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476

Review 5.  Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Authors:  Chamara Sampath Paththinige; Nirmala Dushyanthi Sirisena; Fabienne Escande; Sylvie Manouvrier; Florence Petit; Vajira Harshadeva Weerabaddana Dissanayake
Journal:  BMC Med Genet       Date:  2019-06-14       Impact factor: 2.103

6.  SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.

Authors:  Ewelina Bukowska-Olech; Anna Sowińska-Seidler; Jolanta Wierzba; Aleksander Jamsheer
Journal:  Orphanet J Rare Dis       Date:  2022-08-26       Impact factor: 4.303
  6 in total

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