Literature DB >> 23790188

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

F Petit1, A-S Jourdain, J Andrieux, G Baujat, C Baumann, C Beneteau, A David, L Faivre, D Gaillard, B Gilbert-Dussardier, P-S Jouk, C Le Caignec, P Loget, L Pasquier, N Porchet, M Holder-Espinasse, S Manouvrier-Hanu, F Escande.   

Abstract

Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  17p13.3 duplication; BHLHA9; SHFLD; SHFM; ectrodactyly

Mesh：

Substances：

Year:  2013        PMID： 23790188     DOI： 10.1111/cge.12219

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 in total

1.  A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

Authors:  Carmela Fusco; Pasquelena De Nittis; Ali Abdullah Alfaiz; Maria Teresa Pellico; Bartolomeo Augello; Natascia Malerba; Leopoldo Zelante; Alexandre Reymond; Giuseppe Merla
Journal:  J Pediatr Genet       Date:  2016-08-31

2.  Bhlha9 regulates apical ectodermal ridge formation during limb development.

Authors:  Kensuke Kataoka; Takahide Matsushima; Yoshiaki Ito; Tempei Sato; Shigetoshi Yokoyama; Hiroshi Asahara
Journal:  J Bone Miner Metab       Date:  2017-03-21       Impact factor: 2.626

3.  Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Authors:  Sajid Malik; Ferda E Percin; Dorothea Bornholdt; Beate Albrecht; Antonio Percesepe; Manuela C Koch; Antonio Landi; Barbara Fritz; Rizwan Khan; Sara Mumtaz; Nurten A Akarsu; Karl-Heinz Grzeschik
Journal:  Am J Hum Genet       Date:  2014-11-13       Impact factor: 11.025

4.  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

5.  Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.

Authors:  Eiko Nagata; Hiroki Kano; Fumiko Kato; Rie Yamaguchi; Shinichi Nakashima; Shinichiro Takayama; Rika Kosaki; Hidefumi Tonoki; Seiji Mizuno; Satoshi Watanabe; Koh-Ichiro Yoshiura; Tomoki Kosho; Tomonobu Hasegawa; Mamori Kimizuka; Atsushi Suzuki; Kenji Shimizu; Hirofumi Ohashi; Nobuhiko Haga; Hironao Numabe; Emiko Horii; Toshiro Nagai; Hiroshi Yoshihashi; Gen Nishimura; Tatsushi Toda; Shuji Takada; Shigetoshi Yokoyama; Hiroshi Asahara; Shinichiro Sano; Maki Fukami; Shiro Ikegawa; Tsutomu Ogata
Journal:  Orphanet J Rare Dis       Date:  2014-10-21       Impact factor: 4.123

6.  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 7.  Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.

Authors:  Sara M Blazejewski; Sarah A Bennison; Trevor H Smith; Kazuhito Toyo-Oka
Journal:  Front Genet       Date:  2018-03-23       Impact factor: 4.599

8.  17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.

Authors:  Yuqi Shen; Nuo Si; Zhe Liu; Fang Liu; Xiaolu Meng; Ying Zhang; Xue Zhang
Journal:  Orphanet J Rare Dis       Date:  2018-07-03       Impact factor: 4.123

Review 9.  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

10.  Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.

Authors:  Mayadhar Barik; Pravash R Mishra; Ashok Kumar Mohapatra
Journal:  J Pediatr Neurosci       Date:  2018 Jan-Mar
  10 in total

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