A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. Issue 7 (20th May 2013)

• Record Type: Journal Article
• Authors: Akawi, Nadia; Ali, Bassam; Al Gazali, Lihadh
• Is Part Of: Birth defects research. Volume 97:Issue 7(2013:Jul.)
• Page Start: 456
• Page End: 462
• Publication Date: 2013-05-20
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23136
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We report on a Palestinian family with three affected individuals exhibiting progeroid syndrome characterized by intrauterine growth retardation, a progeroid appearance, failure to thrive, short stature, and hypotonia. The progeroid features were evident at birth. All the affected members of this family have survived beyond the neonatal period and one of them is currently a 27‐year‐old adult. As parental consanguinity suggested an autosomal recessive mode of inheritance, we employed homozygosity mapping using single nucleotide polymorphism arrays followed by next generation whole exome sequencing to identify the disease‐causing gene. We were able to identify a single block of homozygosity shared between all the affected members of the studied family spanning 2.3 Mb on chromosome 19p13.3p13.2. However, Sanger sequencing of known genes and whole exome sequencing of the three affected sibs did not reveal a convincing causal mutation. These findings are anticipated to open the way for the identification of the molecular causes underlying this syndrome. <italic>Birth Defects Research (Part A) 97:456–462, 2013</italic>. © 2013 Wiley Periodicals, Inc.</p> </abstract>