Literature DB >> 26338046

Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.

Rita Jorge1, Carmen Silva1, Sofia Águeda1, Sofia Dória2, Miguel Leão2,3.   

Abstract

19p13.13 microdeletion has been consistently associated with intellectual disability, overgrowth, and macrocephaly. We report a 19p13.13 microdeletion, detected by array CGH, in a girl with moderate intellectual disability, overgrowth with macrocephaly, prominent digit pads and deep digital creases, hypotonia, ataxia, and strabismus. This clinical report helps to delineate the role of some of the deleted genes, as well as the phenotype of recently described 19p13.13 microdeletion syndrome, including the description of novel digital abnormalities.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  19p13.13 microdeletion; NFIX; finger pads; intellectual disability; overgrowth

Mesh：

Year:  2015        PMID： 26338046     DOI： 10.1002/ajmg.a.37280

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


  5 in total

1.  A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Authors:  Kelly Schoch; Linyan Meng; Szabolcs Szelinger; David R Bearden; Asbjorg Stray-Pedersen; Oyvind L Busk; Nicholas Stong; Eriskay Liston; Ronald D Cohn; Fernando Scaglia; Jill A Rosenfeld; Jennifer Tarpinian; Cara M Skraban; Matthew A Deardorff; Jeremy N Friedman; Zeynep Coban Akdemir; Nicole Walley; Mohamad A Mikati; Peter G Kranz; Joan Jasien; Allyn McConkie-Rosell; Marie McDonald; Stephanie Burns Wechsler; Michael Freemark; Sujay Kansagra; Sharon Freedman; Deeksha Bali; Francisca Millan; Sherri Bale; Stanley F Nelson; Hane Lee; Naghmeh Dorrani; David B Goldstein; Rui Xiao; Yaping Yang; Jennifer E Posey; Julian A Martinez-Agosto; James R Lupski; Michael F Wangler; Vandana Shashi
Journal:  Am J Hum Genet       Date:  2017-01-26       Impact factor: 11.043

2.  Further delineation of Malan syndrome.

Authors:  Manuela Priolo; Denny Schanze; Katrin Tatton-Brown; Paul A Mulder; Jair Tenorio; Kreepa Kooblall; Inés Hernández Acero; Fowzan S Alkuraya; Pedro Arias; Laura Bernardini; Emilia K Bijlsma; Trevor Cole; Christine Coubes; Irene Dapia; Sally Davies; Nataliya Di Donato; Nursel H Elcioglu; Jill A Fahrner; Alison Foster; Noelia García González; Ilka Huber; Maria Iascone; Ann-Sophie Kaiser; Arveen Kamath; Jan Liebelt; Sally Ann Lynch; Saskia M Maas; Corrado Mammì; Inge B Mathijssen; Shane McKee; Leonie A Menke; Ghayda M Mirzaa; Tara Montgomery; Dorothee Neubauer; Thomas E Neumann; Letizia Pintomalli; Maria Antonietta Pisanti; Astrid S Plomp; Sue Price; Claire Salter; Fernando Santos-Simarro; Pierre Sarda; Mabel Segovia; Charles Shaw-Smith; Sarah Smithson; Mohnish Suri; Rita Maria Valdez; Arie Van Haeringen; Johanna M Van Hagen; Marcela Zollino; Pablo Lapunzina; Rajesh V Thakker; Martin Zenker; Raoul C Hennekam
Journal:  Hum Mutat       Date:  2018-06-25       Impact factor: 4.878

Review 3.  Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.

Authors:  Fernanda T Bellucco; Claudia B de Mello; Vera A Meloni; Maria Isabel Melaragno
Journal:  Mol Genet Genomic Med       Date:  2019-10-01       Impact factor: 2.183

4.  19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.

Authors:  Hai-Yun Dong; Hui Zeng; Yi-Qiao Hu; Li Xie; Jian Wang; Xiu-Ying Wang; Yi-Feng Yang; Zhi-Ping Tan
Journal:  Mol Cytogenet       Date:  2016-09-22       Impact factor: 2.009

5.  MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells.

Authors:  Tianrui Jing; Jing Ma; Huanqiang Zhao; Jin Zhang; Nan Jiang; Duan Ma
Journal:  FEBS Open Bio       Date:  2020-04-29       Impact factor: 2.693
  5 in total

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