A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Issue 8 (9th July 2013)

• Record Type: Journal Article
• Authors: Zechi‐Ceide, Roseli Maria; Moura, Priscila Padilha; Raskin, Salmo; Richieri‐Costa, Antonio; Guion‐Almeida, Maria Leine
• Is Part Of: American journal of medical genetics. Volume 161:Issue 8(2013:Aug.)
• Page Start: 2088
• Page End: 2094
• Publication Date: 2013-07-09
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36057
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36057-sec-0001" sec-type="section"> <p>Mutations in solute carrier family 26 (sulfate transporter), member 2 (<italic>SLC26A2</italic>) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. The clinical variability has been ascribed to quantitative effect of mutations of the sulfate transporter activity. Here we describe two Brazilian sisters, born to healthy and non consanguineous parents, with Robin sequence, mild shortening of upper and lower limbs, brachymetacarpalia/tarsalia, additional and accelerated carpal ossification, marked <italic>genu valgum</italic>, and multiple epiphysial dysplasia. This phenotype was intermediate between DTD and rMED, and both girls have a compound heterozygous mutations for the <italic>SLC26A2</italic>, a Finnish founder mutation (c.−26 + 2T&gt;C), and R279W. This combination of mutations has been observed in individuals with different phenotypes, including DTD, DTD variant, and rMED. The distinct phenotype of our cases reinforces the hypothesis that other factors may be influencing the phenotype as previously suggested. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>