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Association of Ahsg With Alopecia and Mental Retardation (Apmr) Syndrome Publisher Pubmed



Reza Sailani M1 ; Jahanbani F1 ; Nasiri J3 ; Behnam M5 ; Salehi M4, 6 ; Sedghi M6 ; Hoseinzadeh M6 ; Takahashi S1 ; Zia A1 ; Gruber J1 ; Lynch JL1 ; Lam D1 ; Winkelmann J1 ; Amirkiai S1 Show All Authors
Authors
  1. Reza Sailani M1
  2. Jahanbani F1
  3. Nasiri J3
  4. Behnam M5
  5. Salehi M4, 6
  6. Sedghi M6
  7. Hoseinzadeh M6
  8. Takahashi S1
  9. Zia A1
  10. Gruber J1
  11. Lynch JL1
  12. Lam D1
  13. Winkelmann J1
  14. Amirkiai S1
  15. Pang B1
  16. Rego S1
  17. Mazroui S7
  18. Bernstein JA2
  19. Snyder MP1
Show Affiliations
Authors Affiliations
  1. 1. Department of Genetics, Stanford University, Stanford, CA, United States
  2. 2. Department of Pediatrics, Stanford University, Stanford, CA, United States
  3. 3. Child Growth and Development Research Center, Pediatrics Department, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Division of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Medical Genetic Laboratory of Genome, Isfahan, Iran
  6. 6. Medical Genetics Laboratory, Isfahan University Hospital, Isfahan, Iran
  7. 7. Clinic of Internal Medicine, Department of Cardiology, University Heart Center, Jena University Hospital, Jena, Germany

Source: Human Genetics Published:2017


Abstract

Alopecia with mental retardation syndrome (APMR) is a very rare autosomal recessive condition that is associated with total or partial absence of hair from the scalp and other parts of the body as well as variable intellectual disability. Here we present whole-exome sequencing results of a large consanguineous family segregating APMR syndrome with seven affected family members. Our study revealed a novel predicted pathogenic, homozygous missense mutation in the AHSG (OMIM 138680) gene (AHSG: NM_001622:exon7:c.950G>A:p.Arg317His). The variant is predicted to affect a region of the protein required for protein processing and disrupts a phosphorylation motif. In addition, the altered protein migrates with an aberrant size relative to healthy individuals. Consistent with the phenotype, AHSG maps within APMR linkage region 1 (APMR 1) as reported before, and falls within runs of homozygosity (ROH). Previous families with APMR syndrome have been studied through linkage analyses and the linkage resolution did not allow pointing out to a single gene candidate. Our study is the first report to identify a homozygous missense mutation for APMR syndrome through whole-exome sequencing. © 2017, Springer-Verlag Berlin Heidelberg.
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