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Título
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
Autor(es)
Materia
ACAN
Aggrecan
Brachydactyly
Short stature
Skeletal dysplasia
Fecha de publicación
2018
Citación
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829
Resumen
[EN]Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type
(SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia,
spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing
(NGS) has aided the identification of heterozygous ACAN mutations in individuals
with short stature, minor skeletal defects and mild facial dysmorphisms, some of
whom have advanced bone age (BA), poor pubertal spurt and early growth cessation
as well as precocious osteoarthritis.
URI
ISSN
0300-0664
DOI
10.1111/cen.13581
Versión del editor
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