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BMC Medical Genetics

Featured News: BMC Research Notes goes back to its roots

CC 2.0, Moyan Brenn, Flickr

We are excited to announce that BMC Research Notes has renewed its focus on publishing short research notes and potential dark data. We have introduced a new article type and widened the scope to all scientific and clinical disciplines.

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Featured article: Rare CNV screening in ulcerative colitis

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Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

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Featured case report: Novel mutation linked to MODY

Pixabay, CC0

This case reports a novel heterozygous missense mutation in the HNF-1α gene in a family with members affected by maturity onset diabetes of the young (MODY). The family also showed increased susceptibility to type 2 diabetes. The authors conclude that the presence of type 2 diabetes should not detract from the possibility of MODY in patients with family history.

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1. RESEARCH ARTICLE

   A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

   Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan and Saadullah Khan

   Published on: 12 April 2017
2. RESEARCH ARTICLE

   SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

   Katariina Hirvonen, Hannele Laivuori, Jari Lahti, Timo Strandberg, Johan G. Eriksson and Peter Hackman

   Published on: 11 April 2017
3. CASE REPORT

   Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

   N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie and D. G. Evans

   Published on: 5 April 2017
4. RESEARCH ARTICLE

   Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population

   Renato Assis Machado, Edimilson Martins de Freitas, Sibele Nascimento de Aquino, Daniella Reis B. Martelli, Mário Sérgio Oliveira Swerts, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Helenara Salvati Bertolossi Moreira, Verônica Oliveira Dias, Ricardo D. Coletta and Hercílio Martelli-Júnior

   Published on: 4 April 2017
5. RESEARCH ARTICLE

   Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

   Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim and Yonggoo Kim

   Published on: 28 March 2017

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