Literature DB >> 21957350

Camptodactyly in Sotos syndrome.

S Danda1, M C Mathew, S M Bain, S Palnok.   

Abstract

We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.

Entities:  

Keywords:  Camptodactyly; Sotos syndrome; Weaver syndrome

Year:  2007        PMID： 21957350      PMCID： PMC3168163          DOI： 10.4103/0971-6866.34711

Source DB:  PubMed          Journal:  Indian J Hum Genet        ISSN： 1998-362X


  8 in total

1.  NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Authors:  Jenny Douglas; Sandra Hanks; I Karen Temple; Sally Davies; Alexandra Murray; Meena Upadhyaya; Susan Tomkins; Helen E Hughes; Trevor R P Cole; Nazneen Rahman
Journal:  Am J Hum Genet       Date:  2002-12-02       Impact factor: 11.025

2.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

3.  Clinical and molecular overlap in overgrowth syndromes.

Authors:  Geneviève Baujat; Marlène Rio; Sylvie Rossignol; Damien Sanlaville; Stanislas Lyonnet; Martine Le Merrer; Arnold Munnich; Christine Gicquel; Laurence Colleaux; Valérie Cormier-Daire
Journal:  Am J Med Genet C Semin Med Genet       Date:  2005-08-15       Impact factor: 3.908

4.  Haploinsufficiency of NSD1 causes Sotos syndrome.

Authors:  Naohiro Kurotaki; Kiyoshi Imaizumi; Naoki Harada; Mitsuo Masuno; Tatsuro Kondoh; Toshiro Nagai; Hirofumi Ohashi; Kenji Naritomi; Masato Tsukahara; Yoshio Makita; Tateo Sugimoto; Tohru Sonoda; Tomoko Hasegawa; Yasuaki Chinen; Hiro-aki Tomita Ha; Akira Kinoshita; Tsuyoshi Mizuguchi; Koh-ichiro Yoshiura Ki; Tohru Ohta; Tatsuya Kishino; Yoshimitsu Fukushima; Norio Niikawa; Naomichi Matsumoto
Journal:  Nat Genet       Date:  2002-03-18       Impact factor: 38.330

5.  Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Authors:  Naohiro Kurotaki; Naoki Harada; Osamu Shimokawa; Noriko Miyake; Hiroshi Kawame; Kimiaki Uetake; Yoshio Makita; Tatsuro Kondoh; Tsutomu Ogata; Tomoko Hasegawa; Toshiro Nagai; Takao Ozaki; Mayumi Touyama; Ruthie Shenhav; Hirofumi Ohashi; Livija Medne; Takashi Shiihara; Shigeyuki Ohtsu; Zen-ichiro Kato; Nobuhiko Okamoto; Junji Nishimoto; Dorit Lev; Yoko Miyoshi; Satoshi Ishikiriyama; Tohru Sonoda; Satoru Sakazume; Yoshimitsu Fukushima; Kenji Kurosawa; Jan-Fang Cheng; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

6.  Congenital heart defects in Sotos syndrome.

Authors:  D R Noreau; J Al-Ata; L Jutras; A S Teebi
Journal:  Am J Med Genet       Date:  1998-10-02

7.  Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Authors:  M Rio; L Clech; J Amiel; L Faivre; S Lyonnet; M Le Merrer; S Odent; D Lacombe; P Edery; R Brauner; O Raoul; P Gosset; M Prieur; M Vekemans; A Munnich; L Colleaux; V Cormier-Daire
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

8.  Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Authors:  M Cecconi; F Forzano; D Milani; S Cavani; C Baldo; A Selicorni; C Pantaleoni; M Silengo; G B Ferrero; G Scarano; M Della Monica; R Fischetto; P Grammatico; S Majore; G Zampino; L Memo; E Lucci Cordisco; G Neri; M Pierluigi; F Dagna Bricarelli; M Grasso; Francesca Faravelli
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802
  8 in total

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