Silver Russel syndrome in an aboriginal patient from Australia.
Am J Med Genet A
; 176(12): 2561-2563, 2018 12.
Article
en En
| MEDLINE
| ID: mdl-30152198
ABSTRACT
Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%-70% of patients. We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP). Genomic sequencing was performed which identified a heterozygous splice site variant in IGF2 which is predicted to be pathogenic by in-silico studies, paternal allelic origin, de novo status, and RNA studies on fibroblasts. We compare clinical findings with reported patients to add to the knowledge base on IGF2 variants and to promote the engagement of other Australian Aboriginal families in genomic medicine.
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Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Silver-Russell
Tipo de estudio:
Prognostic_studies
País/Región como asunto:
Oceania
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2018
Tipo del documento:
Article