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Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

Authors
  • Kausar, Mehran1
  • Mäkitie, Riikka E2
  • Toiviainen-Salo, Sanna3
  • Ignatius, Jaakko4
  • Anees, Mariam5
  • Mäkitie, Outi6
  • 1 Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan; Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland. , (Finland)
  • 2 Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland. , (Finland)
  • 3 Department of Pediatric Radiology, HUS Medical Imaging Centre, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. , (Finland)
  • 4 Department of Clinical Genetics, University of Turku and Turku University Hospital, Turku, Finland. , (Finland)
  • 5 Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan. , (Pakistan)
  • 6 Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address: [email protected] , (Finland)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103573–103573
Identifiers
DOI: 10.1016/j.ejmg.2018.11.007
PMID: 30423444
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysplasias. We report on two new patients with rMED and very rare compound heterozygous mutation combinations in non-consanguineous families. Patient I presented in childhood with waddling gait and joint stiffness. Radiographs showed epiphyseal changes, bilateral coxa plana-deformity and knee valgus deformity, for which he underwent surgeries. At present 33 years his height is 165 cm. Patient II presented with cleft palate, small jaw, short limbs, underdeveloped thumbs and on radiographs, cervical kyphosis with an underdeveloped C4. He also developed severe scoliosis but has grown at -2.9 SD curve. Molecular analysis revealed that patient I is heterozygous for two known pathogenic variants in SLC26A2, a splice site variant c.-26+2T > C and a missense variant c.1957T > A (p.Cys653Ser), while patient II is compound heterozygous for missense variants c.835C > T (p.Arg279Trp) and c.1535C > A (p.Thr512Lys). These patients further elucidate the variability of the phenotypic and genetic presentations of rMED. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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