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Two novel mutations in XYLT2 cause spondyloocular syndrome
Author(s) -
Taylan Fulya,
Yavaş Abalı Zehra,
Jäntti Nina,
Güneş Nilay,
Darendeliler Feyza,
Baş Firdevs,
Poyrazoğlu Şükran,
Tamçelik Nevbahar,
Tüysüz Beyhan,
Mäkitie Outi
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38470
Subject(s) - short stature , genetics , hearing loss , mutation , phenotype , medicine , genotype , gene , biology , pediatrics , audiology
We report on two new patients with spondyloocular syndrome. Both patients harbor novel homozygous mutations in the XYLT2 gene. The patients present severe generalized osteoporosis, multiple fractures, short stature, cataract, and mild hearing impairment. XYLT2 mutations have been identified in spondyloocular syndrome, however only five mutations have been reported previously. These two patients with novel mutations extend the phenotypic and genotypic spectrum of spondyloocular syndrome.