Literature DB >> 25974638

Report of a case of Raine syndrome and literature review.

Mohammed Zain Seidahmed1, Anas M Alazami2, Omer Bashir Abdelbasit1, Khalid Al Hussein1, Abeer M Miqdad1, Omar Abu-Sa'da1, Tareq Mustafa3, Sarah Bahjat4, Fowzan S Alkuraya2,5.   

Abstract

We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  Raine syndrome; exophthalmos; hypoplastic nose; intracranial calcification; osteosclerosis; pachygyria

Mesh：

Substances：

Year:  2015        PMID： 25974638     DOI： 10.1002/ajmg.a.37159

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


  8 in total

1.  Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia.

Authors:  Peihong Liu; Su Ma; Hua Zhang; Chao Liu; Yongbo Lu; Li Chen; Chunlin Qin
Journal:  Sci Rep       Date:  2017-06-15       Impact factor: 4.379

2.  Loss of Fam20c causes defects in the acinar and duct structure of salivary glands in mice.

Authors:  Nan Miao; Yuanbo Zhan; Yingying Xu; Haoze Yuan; Chunlin Qin; Feng Lin; Xiaohua Xie; Sen Mu; Mengtong Yuan; Haibin Mu; Shouli Guo; Ying Li; Bin Zhang
Journal:  Int J Mol Med       Date:  2019-03-06       Impact factor: 4.101

Review 3.  The ABCs of the atypical Fam20 secretory pathway kinases.

Authors:  Carolyn A Worby; Joshua E Mayfield; Adam J Pollak; Jack E Dixon; Sourav Banerjee
Journal:  J Biol Chem       Date:  2021-01-08       Impact factor: 5.157

Review 4.  Transcription Factors of the Alx Family: Evolutionarily Conserved Regulators of Deuterostome Skeletogenesis.

Authors:  Jian Ming Khor; Charles A Ettensohn
Journal:  Front Genet       Date:  2020-11-23       Impact factor: 4.599

5.  Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth.

Authors:  Li-Li Li; Pei-Hong Liu; Xiao-Hua Xie; Su Ma; Chao Liu; Li Chen; Chun-Lin Qin
Journal:  Int J Oral Sci       Date:  2016-06-30       Impact factor: 6.344

6.  Two Novel FAM20C Variants in A Family with Raine Syndrome.

Authors:  Araceli Hernández-Zavala; Fernando Cortés-Camacho; Icela Palma Lara; Ricardo Godinez-Aguilar; Ana María Espinosa-García; Javier Pérez-Durán; Patricia Villanueva-Ocampo; Carlos Ugarte-Briones; Carlos Alberto Serrano-Bello; Paula Sanchez-Santiago; José Bonilla-Delgado; Marco Antonio Yañez-López; Georgina Victoria-Acosta; Adolfo López-Ornelas; Patricia García Alonso-Themann; José Moreno; Carmen Palacios-Reyes
Journal:  Genes (Basel)       Date:  2020-02-20       Impact factor: 4.096

7.  A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Authors:  Mehmet Eltan; Ceren Alavanda; Zehra Yavas Abali; Pinar Ergenekon; Nilufer Yalındag Ozturk; Mustafa Sakar; Adnan Dagcinar; Tarik Kirkgoz; Sare Betul Kaygusuz; Yasemin Gokdemir; Huriye Nursel Elcioglu; Tulay Guran; Abdullah Bereket; Pinar Ata; Serap Turan
Journal:  Calcif Tissue Int       Date:  2020-04-27       Impact factor: 4.333

8.  Quantification of FAM20A in human milk and identification of calcium metabolism proteins.

Authors:  Vaksha Patel; Enriko Klootwijk; Gail Whiting; Detlef Bockenhauer; Keith Siew; Stephen Walsh; Markus Bleich; Nina Himmerkus; Graciana Jaureguiberry; Naomi Issler; Jasminka Godovac-Zimmermann; Robert Kleta; Jun Wheeler
Journal:  Physiol Rep       Date:  2021-12
  8 in total

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