PMID- 28054173
OWN - NLM
STAT- MEDLINE
DCOM- 20170620
LR  - 20181113
IS  - 1432-1203 (Electronic)
IS  - 0340-6717 (Linking)
VI  - 136
IP  - 3
DP  - 2017 Mar
TI  - Association of AHSG with alopecia and mental retardation (APMR) syndrome.
PG  - 287-296
LID - 10.1007/s00439-016-1756-5 [doi]
AB  - 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.
FAU - Reza Sailani, M
AU  - Reza Sailani M
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Jahanbani, Fereshteh
AU  - Jahanbani F
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Nasiri, Jafar
AU  - Nasiri J
AD  - Child Growth and Development Research Center, Pediatrics Department, Isfahan 
      University of Medical Sciences, Isfahan, Iran.
FAU - Behnam, Mahdiyeh
AU  - Behnam M
AD  - Medical Genetic Laboratory of Genome, Isfahan, Iran.
FAU - Salehi, Mansoor
AU  - Salehi M
AD  - Division of Genetics and Molecular Biology, Isfahan University of Medical 
      Sciences, Isfahan, Iran.
AD  - Medical Genetics Laboratory, Isfahan University Hospital, Isfahan, Iran.
FAU - Sedghi, Maryam
AU  - Sedghi M
AD  - Medical Genetics Laboratory, Isfahan University Hospital, Isfahan, Iran.
FAU - Hoseinzadeh, Majid
AU  - Hoseinzadeh M
AD  - Medical Genetics Laboratory, Isfahan University Hospital, Isfahan, Iran.
FAU - Takahashi, Shinichi
AU  - Takahashi S
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Zia, Amin
AU  - Zia A
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Gruber, Joshua
AU  - Gruber J
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Lynch, Janet Linnea
AU  - Lynch JL
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Lam, Daniel
AU  - Lam D
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Winkelmann, Juliane
AU  - Winkelmann J
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Amirkiai, Semira
AU  - Amirkiai S
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Pang, Baoxu
AU  - Pang B
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Rego, Shannon
AU  - Rego S
AD  - Department of Genetics, Stanford University, Stanford, CA, USA.
FAU - Mazroui, Safoura
AU  - Mazroui S
AD  - Clinic of Internal Medicine, Department of Cardiology, University Heart Center, 
      Jena University Hospital, Jena, Germany.
FAU - Bernstein, Jonathan A
AU  - Bernstein JA
AD  - Department of Pediatrics, Stanford University, Stanford, CA, USA.
FAU - Snyder, Michael P
AU  - Snyder MP
AD  - Department of Genetics, Stanford University, Stanford, CA, USA. 
      mpsnyder@stanford.edu.
LA  - eng
GR  - 1P50HG00773501/HG/NHGRI NIH HHS/United States
GR  - 8U54DK10255602/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20170104
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (AHSG protein, human)
RN  - 0 (alpha-2-HS-Glycoprotein)
SB  - IM
MH  - Alopecia/*genetics
MH  - Amino Acid Sequence
MH  - Blotting, Western
MH  - Consanguinity
MH  - Exome
MH  - Female
MH  - Homozygote
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Mutation, Missense
MH  - Pedigree
MH  - Phosphorylation
MH  - alpha-2-HS-Glycoprotein/chemistry/*genetics
EDAT- 2017/01/06 06:00
MHDA- 2017/06/21 06:00
CRDT- 2017/01/06 06:00
PHST- 2016/08/18 00:00 [received]
PHST- 2016/12/25 00:00 [accepted]
PHST- 2017/01/06 06:00 [pubmed]
PHST- 2017/06/21 06:00 [medline]
PHST- 2017/01/06 06:00 [entrez]
AID - 10.1007/s00439-016-1756-5 [pii]
AID - 10.1007/s00439-016-1756-5 [doi]
PST - ppublish
SO  - Hum Genet. 2017 Mar;136(3):287-296. doi: 10.1007/s00439-016-1756-5. Epub 2017 Jan 
      4.