Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

F Santos-Simarro; E Vallespin; A Del Pozo; K Ibañez; J C Silla; L Fernandez; J Nevado; H González-Pecellín; V E F Montaño; R Martin; L I Alba Valdivia; S García-Miñaúr; P Lapunzina; M Palomares-Bralo

doi:10.1111/cge.12965

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30.

Authors

F Santos-Simarro^{1

2}, E Vallespin^{2

3}, A Del Pozo^{2

4}, K Ibañez^{2

4}, J C Silla^{2

4}, L Fernandez^{2

3}, J Nevado^{2

3}, H González-Pecellín^{2

3}, V E F Montaño^{2

3}, R Martin^{2

3}, L I Alba Valdivia³, S García-Miñaúr^{1

2}, P Lapunzina^{1

2}, M Palomares-Bralo^{2

3}

Affiliations

¹ Sección de genética clínica, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
² Unidad 753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
³ Sección de genómica estructural y funcional, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
⁴ Sección de bioinformática, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.

PMID: 28074499
DOI: 10.1111/cge.12965

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / metabolism
Child, Preschool
Coloboma / genetics*
Coloboma / metabolism
Female
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / metabolism
Humans
Male
Mutation*
RNA Splicing Factors / genetics*
Repressor Proteins / genetics*
Sequence Analysis, DNA

Substances

RNA Splicing Factors
Repressor Proteins
poly-U binding splicing factor 60KDa