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Clin Genet. 2017 Sep;92(3):323-326. doi: 10.1111/cge.13006. Epub 2017 Apr 19.

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Author information

1
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
2
Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.

Abstract

Steel syndrome is a rare disorder of the skeleton characterized by facial dysmorphism, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus. Homozygous variants in COL27A1 were reported in an extending family from Puerto Rico. Here, we report a 5-year-old girl from a non-consanguineous family with facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis and vertical talus. Exome sequencing identified 2 novel compound heterozygous variants c.521_528del (p.(Cys174Serfs*34)) and c.2119C>T (p.(Arg707*)) in COL27A1 in this child and the parents were heterozygous carriers. We hence report the second molecularly proven case of Steel syndrome and the first case to be reported among non-Puerto Rican population. Our report further validates the role of COL27A1 mutations in causation of Steel syndrome.

KEYWORDS:

COL27A1 ; Steel syndrome; bilateral hip dislocations; carpal coalition; dislocated radial heads

PMID:
28276056
DOI:
10.1111/cge.13006
[Indexed for MEDLINE]

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