• Medientyp: E-Artikel
  • Titel: A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
  • Beteiligte: Laxer, Caley; Rahman, Sofia A.; Sherif, Maha; Tahir, Sophia; Cayir, Atilla; Demirbilek, Huseyin; Hussain, Khalid
  • Erschienen: Walter de Gruyter GmbH, 2016
  • Erschienen in: Journal of Pediatric Endocrinology and Metabolism
  • Umfang:
  • Sprache: Nicht zu entscheiden
  • DOI: 10.1515/jpem-2015-0249
  • ISSN: 2191-0251; 0334-018X
  • Schlagwörter: Endocrinology ; Endocrinology, Diabetes and Metabolism ; Pediatrics, Perinatology and Child Health
  • Zusammenfassung: <jats:title>Abstract</jats:title><jats:p>Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (</jats:p><jats:p>In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.</jats:p><jats:p>Both brothers were found to be homozygous for a novel nonsense c.7310C&gt;A (p.S2437X) mutation in exon-8 of</jats:p><jats:p>This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in</jats:p>
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (</jats:p><jats:p>In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.</jats:p><jats:p>Both brothers were found to be homozygous for a novel nonsense c.7310C&gt;A (p.S2437X) mutation in exon-8 of</jats:p><jats:p>This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in</jats:p>
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