Premium
Mutations in IFT80 cause SRPS Type IV. Report of two families and review
Author(s) -
Bizaoui Varoona,
Huber Céline,
Kohaut Eva,
Roume Joelle,
Bonnière Maryse,
AttiéBitach Tania,
CormierDaire Valérie
Publication year - 2019
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.61050
Subject(s) - ciliopathies , genetics , biology , gene , phenotype , mutation
We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer‐Langer syndrome (BLS) or BLS‐like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.