Literature DB >> 10798366

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

A R Afzal1, A Rajab, C Fenske, A Crosby, N Lahiri, E Ternes-Pereira, V A Murday, R Houlston, M A Patton, S Jeffery.   

Abstract

Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region between markers D9S1836 and D9S1803 (maximum multipoint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.

Entities:  

Mesh:

Year:  2000        PMID: 10798366     DOI: 10.1007/s004390051049

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  4 in total

Review 1.  Robinow syndrome.

Authors:  M A Patton; A R Afzal
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

2.  Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.

Authors:  Parag M Tamhankar; Lakshmi Vasudevan; Shweta Kondurkar; K Yashaswini; Sunil Kumar Agarwalla; Mohandas Nair; T V Ramkumar; Nitin Chaubal; Vasundhara Sridhar Chennuri
Journal:  J Clin Res Pediatr Endocrinol       Date:  2014

3.  Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a.

Authors:  Chunqiao Liu; Chen Lin; Chun Gao; Helen May-Simera; Anand Swaroop; Tiansen Li
Journal:  Biol Open       Date:  2014-09-04       Impact factor: 2.422

4.  Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.

Authors:  Brian C Gibbs; Rama Rao Damerla; Eszter K Vladar; Bishwanath Chatterjee; Yong Wan; Xiaoqin Liu; Cheng Cui; George C Gabriel; Maliha Zahid; Hisato Yagi; Heather L Szabo-Rogers; Kaye L Suyama; Jeffrey D Axelrod; Cecilia W Lo
Journal:  Biol Open       Date:  2016-02-16       Impact factor: 2.422

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.