Literature DB >> 1887855

Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report.

S M Shebib1, M H Reed, E P Shuckett, H G Cross, J B Perry, A E Chudley.   

Abstract

We report on a child with a unique constellation of congenital anomalies suggesting a new syndrome. These consist of developmental delay; craniofacial abnormalities, including bilateral cataracts, ptosis, median nasal groove, malformed ears with associated neurosensory hearing loss; dental anomalies consisting of anomalous cusp morphology with unusual pointed extensions and delayed tooth eruption; short stature with marked delay in epiphyseal ossification; coronal clefts involving vertebrae T11-S2; and dislocated hips. A literature search and use of a computer-assisted syndrome-identification program failed to uncover an identical case.

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Year:  1991        PMID: 1887855     DOI: 10.1002/ajmg.1320400118

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.

Authors:  Roger E Stevenson; Cam K Brasington; Cindy Skinner; Richard J Simensen; J Edward Spence; Shelli Kesler; Allan L Reiss; Charles E Schwartz
Journal:  Am J Med Genet A       Date:  2007-10-01       Impact factor: 2.802

2.  CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

Authors:  Kevin A Strauss; Robert N Jinks; Erik G Puffenberger; Sundararajan Venkatesh; Kamalendra Singh; Iteen Cheng; Natalie Mikita; Jayapalraja Thilagavathi; Jae Lee; Stefan Sarafianos; Abigail Benkert; Alanna Koehler; Anni Zhu; Victoria Trovillion; Madeleine McGlincy; Thierry Morlet; Matthew Deardorff; A Micheil Innes; Chitra Prasad; Albert E Chudley; Irene Nga Wing Lee; Carolyn K Suzuki
Journal:  Am J Hum Genet       Date:  2015-01-08       Impact factor: 11.025

3.  Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.

Authors:  Lu Qiao; Le Xu; Lan Yu; Julia Wynn; Rebecca Hernan; Xueya Zhou; Christiana Farkouh-Karoleski; Usha S Krishnan; Julie Khlevner; Aliva De; Annette Zygmunt; Timothy Crombleholme; Foong-Yen Lim; Howard Needelman; Robert A Cusick; George B Mychaliska; Brad W Warner; Amy J Wagner; Melissa E Danko; Dai Chung; Douglas Potoka; Przemyslaw Kosiński; David J McCulley; Mahmoud Elfiky; Kenneth Azarow; Elizabeth Fialkowski; David Schindel; Samuel Z Soffer; Jane B Lyon; Jill M Zalieckas; Badri N Vardarajan; Gudrun Aspelund; Vincent P Duron; Frances A High; Xin Sun; Patricia K Donahoe; Yufeng Shen; Wendy K Chung
Journal:  Am J Hum Genet       Date:  2021-09-20       Impact factor: 11.025

Review 4.  Mitochondrial Lon protease in human disease and aging: Including an etiologic classification of Lon-related diseases and disorders.

Authors:  Daniela A Bota; Kelvin J A Davies
Journal:  Free Radic Biol Med       Date:  2016-07-05       Impact factor: 7.376

5.  Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.

Authors:  Graeme A M Nimmo; Sundararajan Venkatesh; Ashutosh K Pandey; Christian R Marshall; Lili-Naz Hazrati; Susan Blaser; Sohnee Ahmed; Jessie Cameron; Kamalendra Singh; Peter N Ray; Carolyn K Suzuki; Grace Yoon
Journal:  Hum Mol Genet       Date:  2019-01-15       Impact factor: 6.150

Review 6.  Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.

Authors:  Majid Alfadhel; Marwan Nashabat; Qais Abu Ali; Khalid Hundallah
Journal:  Neurosciences (Riyadh)       Date:  2017-01       Impact factor: 0.906

7.  Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report.

Authors:  Seung Don Yoo; Young Rok Han; Dong Hwan Kim; Seung Ah Lee
Journal:  Medicine (Baltimore)       Date:  2019-06       Impact factor: 1.817

8.  A structure and function relationship study to identify the impact of the R721G mutation in the human mitochondrial lon protease.

Authors:  Zhou Sha; Monica M Montano; Kristy Rochon; Jason A Mears; Daniel Deredge; Patrick Wintrode; Luke Szweda; Natalie Mikita; Irene Lee
Journal:  Arch Biochem Biophys       Date:  2021-07-03       Impact factor: 4.114

Review 9.  Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.

Authors:  Tian Zhao; Caitlin Goedhart; Gerald Pfeffer; Steven C Greenway; Matthew Lines; Aneal Khan; A Micheil Innes; Timothy E Shutt
Journal:  Int J Mol Sci       Date:  2020-11-06       Impact factor: 5.923

  9 in total

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