Literature DB >> 35186392

Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient.

Musallam Al-Araimi1, Nishath Hamza1, Aliya Al-Hosni1, Ashwaq Al Maimani1.   

Abstract

Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the first time. Oman and other Middle East countries have a high consanguine marriage rate. Our case report will increase knowledge of SOS syndrome to be able to provide genetic diagnosis and counseling for other family members and families as well as prenatal diagnostics for the future pregnancies. Thieme. All rights reserved.

Entities:  

Keywords:  cataract; scoliosis; spondylo-ocular syndrome

Year:  2020        PMID： 35186392      PMCID： PMC8847055          DOI： 10.1055/s-0040-1715113

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  7 in total

1.  Two novel mutations in XYLT2 cause spondyloocular syndrome.

Authors:  Fulya Taylan; Zehra Yavaş Abalı; Nina Jäntti; Nilay Güneş; Feyza Darendeliler; Firdevs Baş; Şükran Poyrazoğlu; Nevbahar Tamçelik; Beyhan Tüysüz; Outi Mäkitie
Journal:  Am J Med Genet A       Date:  2017-09-08       Impact factor: 2.802

2.  Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Authors:  Fulya Taylan; Alice Costantini; Nicole Coles; Minna Pekkinen; Elise Héon; Zeynep Şıklar; Merih Berberoğlu; Anders Kämpe; Ertuğrul Kıykım; Giedre Grigelioniene; Beyhan Tüysüz; Outi Mäkitie
Journal:  J Bone Miner Res       Date:  2016-04-04       Impact factor: 6.741

3.  Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Authors:  M Umair; G Eckstein; G Rudolph; T Strom; E Graf; D Hendig; J Hoover; J Alanay; T Meitinger; H Schmidt; W Ahmad
Journal:  Clin Genet       Date:  2018-02-20       Impact factor: 4.438

4.  Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

Authors:  H Schmidt; G Rudolph; M Hergersberg; K Schneider; S Moradi; T Meitinger
Journal:  Clin Genet       Date:  2001-02       Impact factor: 4.438

5.  Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Authors:  Craig F Munns; Somayyeh Fahiminiya; Nabin Poudel; Maria Cristina Munteanu; Jacek Majewski; David O Sillence; Jordan P Metcalf; Andrew Biggin; Francis Glorieux; François Fassier; Frank Rauch; Myron E Hinsdale
Journal:  Am J Hum Genet       Date:  2015-05-28       Impact factor: 11.025

6.  Repository of mutations from Oman: The entry point to a national mutation database.

Authors:  Anna Rajab; Nishath Hamza; Salma Al Harasi; Fatma Al Lawati; Una Gibbons; Intesar Al Alawi; Karoline Kobus; Suha Hassan; Ghariba Mahir; Qasim Al Salmi; Barend Mons; Peter Robinson
Journal:  F1000Res       Date:  2015-09-23

7.  A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.

Authors:  Mehran Kausar; Elaine Guo Yan Chew; Hazrat Ullah; Mariam Anees; Chiea Chuen Khor; Jia Nee Foo; Outi Makitie; Saima Siddiqi
Journal:  Front Genet       Date:  2019-03-05       Impact factor: 4.599
  7 in total

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