Literature DB >> 25958742

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

Salma Ben-Salem1, Sobreira Nara2, Aisha M Al-Shamsi3, David Valle2, Bassam R Ali1, Lihadh Al-Gazali4.   

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Year:  2015        PMID： 25958742      PMCID： PMC4704090          DOI： 10.1111/1346-8138.12917

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  3 in total

1.  CEDNIK syndrome results from loss-of-function mutations in SNAP29.

Authors:  D Fuchs-Telem; H Stewart; D Rapaport; J Nousbeck; A Gat; M Gini; Y Lugassy; S Emmert; K Eckl; H C Hennies; O Sarig; D Goldsher; B Meilik; A Ishida-Yamamoto; M Horowitz; E Sprecher
Journal:  Br J Dermatol       Date:  2011-02-17       Impact factor: 9.302

2.  A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Authors:  Eli Sprecher; Akemi Ishida-Yamamoto; Mordechai Mizrahi-Koren; Debora Rapaport; Dorit Goldsher; Margarita Indelman; Orit Topaz; Ilana Chefetz; Hanni Keren; Timothy J O'brien; Dani Bercovich; Stavit Shalev; Dan Geiger; Reuven Bergman; Mia Horowitz; Hanna Mandel
Journal:  Am J Hum Genet       Date:  2005-06-20       Impact factor: 11.025

3.  Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

Authors:  Donna M McDonald-McGinn; Somayyeh Fahiminiya; Timothée Revil; Beata A Nowakowska; Joshua Suhl; Alice Bailey; Elisabeth Mlynarski; David R Lynch; Albert C Yan; Larissa T Bilaniuk; Kathleen E Sullivan; Stephen T Warren; Beverly S Emanuel; Joris R Vermeesch; Elaine H Zackai; Loydie A Jerome-Majewska
Journal:  J Med Genet       Date:  2012-12-11       Impact factor: 6.318
  3 in total
  3 in total

1.  Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Authors:  Lorida Llaci; Keri Ramsey; Newell Belnap; Ana M Claasen; Chris D Balak; Szabolcs Szelinger; Wayne M Jepsen; Ashley L Siniard; Ryan Richholt; Tyler Izat; Marcus Naymik; Matt De Both; Ignazio S Piras; David W Craig; Matthew J Huentelman; Vinodh Narayanan; Isabelle Schrauwen; Sampathkumar Rangasamy
Journal:  Hum Genet       Date:  2019-11-20       Impact factor: 4.132

2.  New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Authors:  Annelise Y Mah-Som; Cristina Skrypnyk; Andrea Guerin; Raafat Hammad Seroor Jadah; Vinayak Nivrutti Vardhan; Robert C McKinstry; Marwan S Shinawi
Journal:  Neurol Genet       Date:  2021-01-12

3.  CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Authors:  Tina Hsu; Carrie C Coughlin; Kristin G Monaghan; Elise Fiala; Robert C McKinstry; Alex R Paciorkowski; Marwan Shinawi
Journal:  Child Neurol Open       Date:  2017-10-08
  3 in total

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