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Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

Abstract Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in the five reported PS genes. The objective of this study was to identify the genetic cause of PS in an extended consanguineous family with six deaf individuals. Whole exome sequencing (WES) was completed on four affected members of a large family, and variants and co-segregation was confirmed by Sanger sequencing. All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of CLDN14, but this only explains the deafness. The PS proband is also homozygous for a frameshift variant (c.1453_1454delGA, p.Glu485Lysfs*5) in exon 7 of SGO2 encoding shugoshin 2, which is the likely cause of her concurrent ovarian insufficiency. In mouse, Sgol2a encoding shugoshin-like 2a is necessary during meiosis in both sexes to maintain the integrity of the cohesin complex that tethers sister chromatids. Human SGO2 has not previously been implicated in any disorder, but in this case of POI and perhaps others, it is a candidate for unexplained infertility.
PMID
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Authors

Mayor MeshTerms
Keywords

CLDN14

Perrault syndrome

SGO2

Sgol2a

Shugoshin-2

cohesin

coincidental syndrome

ovarian insufficiency

Journal Title clinical genetics
Publication Year Start




PMID- 27629923
OWN - NLM
STAT- Publisher
DA  - 20160915
LR  - 20160915
IS  - 1399-0004 (Electronic)
IS  - 0009-9163 (Linking)
DP  - 2016 Sep 15
TI  - Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
LID - 10.1111/cge.12867 [doi]
AB  - Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by
      primary ovarian insufficiency (POI) in females and sensorineural hearing loss in 
      males and females. In many PS subjects, causative variants have not been found in
      the five reported PS genes. The objective of this study was to identify the
      genetic cause of PS in an extended consanguineous family with six deaf
      individuals. Whole exome sequencing (WES) was completed on four affected members 
      of a large family, and variants and co-segregation was confirmed by Sanger
      sequencing. All hearing impaired individuals, including the proband, are
      homozygous for a pathogenic variant of CLDN14, but this only explains the
      deafness. The PS proband is also homozygous for a frameshift variant
      (c.1453_1454delGA, p.Glu485Lysfs*5) in exon 7 of SGO2 encoding shugoshin 2, which
      is the likely cause of her concurrent ovarian insufficiency. In mouse, Sgol2a
      encoding shugoshin-like 2a is necessary during meiosis in both sexes to maintain 
      the integrity of the cohesin complex that tethers sister chromatids. Human SGO2
      has not previously been implicated in any disorder, but in this case of POI and
      perhaps others, it is a candidate for unexplained infertility.
CI  - This article is protected by copyright. All rights reserved.
FAU - Faridi, Rabia
AU  - Faridi R
AD  - Laboratory of Molecular Genetics, National Institute on Deafness and Other
      Communication Disorders, National Institutes of Health, Bethesda, MD, 20892.
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, 54550, Pakistan.
FAU - Rehman, Atteeq U
AU  - Rehman AU
AD  - Laboratory of Molecular Genetics, National Institute on Deafness and Other
      Communication Disorders, National Institutes of Health, Bethesda, MD, 20892.
FAU - Morell, Robert J
AU  - Morell RJ
AD  - Genomics and Computational Biology Core, NIDCD, NIH, Bethesda, MD, 20892, USA.
FAU - Friedman, Penelope L
AU  - Friedman PL
AD  - Clinical Center, National Institutes of Health, Bethesda, MD, 20892, USA.
FAU - Demain, Leigh
AU  - Demain L
AUID- ORCID: http://orcid.org/0000-0001-8694-7710
AD  - Manchester Centre for Genomic Medicine, University of Manchester and Central
      Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL, UK.
FAU - Zahra, Sana
AU  - Zahra S
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, 54550, Pakistan.
FAU - Khan, Asma Ali
AU  - Khan AA
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, 54550, Pakistan.
FAU - Tohlob, Dalia
AU  - Tohlob D
AD  - Manchester Centre for Genomic Medicine, University of Manchester and Central
      Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL, UK.
AD  - Clinical Pathology Department, Faculty of Medicine, Mansoura University, Egypt.
FAU - Assir, Muhammad Zaman
AU  - Assir MZ
AD  - Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
AD  - Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan, Institute of Medical
      Sciences, Islamabad, Pakistan.
FAU - Beaman, Glenda
AU  - Beaman G
AD  - Manchester Centre for Genomic Medicine, University of Manchester and Central
      Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL, UK.
FAU - Khan, Shaheen N
AU  - Khan SN
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, 54550, Pakistan.
FAU - Newman, William G
AU  - Newman WG
AD  - Manchester Centre for Genomic Medicine, University of Manchester and Central
      Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL, UK.
FAU - Riazuddin, Sheikh
AU  - Riazuddin S
AD  - Allama Iqbal Medical Research Centre, Jinnah Hospital Complex, Lahore, 54550,
      Pakistan.
FAU - Friedman, Thomas B
AU  - Friedman TB
AD  - Laboratory of Molecular Genetics, National Institute on Deafness and Other
      Communication Disorders, National Institutes of Health, Bethesda, MD, 20892.
      [email protected]
LA  - ENG
PT  - JOURNAL ARTICLE
DEP - 20160915
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
OTO - NOTNLM
OT  - CLDN14
OT  - Perrault syndrome
OT  - SGO2
OT  - Sgol2a
OT  - Shugoshin-2
OT  - cohesin
OT  - coincidental syndrome
OT  - ovarian insufficiency
EDAT- 2016/09/16 06:00
MHDA- 2016/09/16 06:00
CRDT- 2016/09/16 06:00
PHST- 2016/07/20 [received]
PHST- 2016/08/31 [revised]
PHST- 2016/09/03 [accepted]
AID - 10.1111/cge.12867 [doi]
PST - aheadofprint
SO  - Clin Genet. 2016 Sep 15. doi: 10.1111/cge.12867.

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