Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Clinical Genetics

Volumn 91, Issue 2, 2017, Pages 328-332

  Faridi, R ^a,b   Rehman, A U ^a,i   Morell, R J ^a   Friedman, P L ^c   Demain, L ^d   Zahra, S ^b   Khan, A A ^b   Tohlob, D ^d,e   Assir, M Z ^f,g   Beaman, G ^d   Khan, S N ^b   Newman, W G ^d   Riazuddin, S ^g,h   Friedman, T B ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^e MANSOURA UNIVERSITY   (Egypt)

^f UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^g SHAHEED ZULFIQAR ALI BHUTTO MEDICAL UNIVERSITY   (Pakistan)

^h JINNAH HOSPITAL   (Pakistan)

ⁱ BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

CLDN14; cohesin; coincidental syndrome; infertility; ovarian insufficiency; Perrault syndrome; SGO2; Sgol2a; Shugoshin 2

Indexed keywords

ADULT; ARTICLE; CLDN14 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MALE; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SANGER SEQUENCING; SGO2 GENE; WHOLE EXOME SEQUENCING; YOUNG ADULT; ANIMAL; CONSANGUINITY; EXOME; GENETICS; HOMOZYGOTE; MOUSE; MUTATION; PATHOLOGY; PEDIGREE; XX GONADAL DYSGENESIS;

CELL CYCLE PROTEIN; CLAUDIN; CLAUDIN 14; SGOL2 PROTEIN, HUMAN;

ANIMALS; CELL CYCLE PROTEINS; CLAUDINS; CONSANGUINITY; EXOME; FEMALE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; MALE; MICE; MUTATION; PEDIGREE;

EID: 85005965333     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12867     Document Type: Article

References (23)

1. Jenkinson EM, Clayton-Smith J, Mehta S et al. Perrault syndrome: further evidence for genetic heterogeneity. J Neurol 2012: 259: 974–976.
2. Fiumara A, Sorge G, Toscano A et al. Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A 2004: 128A: 246–249.
3. Agrawala RK, Choudhury AK, Mohanty BK et al. Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder. J Pediatr Endocrinol Metab 2015: 28: 1005–1007.
4. Jacob JJ, Paul TV, Mathews SS et al. Perrault syndrome with Marfanoid habitus in two siblings. J Pediatr Adolesc Gynecol 2007: 20: 305–308.
5. Konkolova J, Petrovic R, Chandoga J et al. Peroxisomal D-bifunctional protein deficiency: first case reports from Slovakia. Gene 2015: 568: 61–68.
6. Demain LA, Urquhart JE, O'Sullivan J et al. Expanding the genotypic spectrum of Perrault syndrome. Clin Genet 2016. DOI: 10.1111/cge.12776.
7. Wilcox ER, Burton QL, Naz S et al. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 2001: 104: 165–172.
8. Lee K, Ansar M, Andrade PB et al. Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. Am J Med Genet A 2012: 158a: 315–321.
9. Ben-Yosef T, Belyantseva IA, Saunders TL et al. Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 2003: 12: 2049–2061.
10. Bashir ZE, Latief N, Belyantseva IA et al. Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. J Hum Genet 2013: 58: 102–108.
11. Narasimhan VM, Hunt KA, Mason D et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science 2016: 352 (6284): 474–477.
12. Salic A, Waters JC, Mitchison TJ. Vertebrate shugoshin links sister centromere cohesion and kinetochore microtubule stability in mitosis. Cell 2004: 118: 567–578.
13. Llano E, Gomez R, Gutierrez-Caballero C et al. Shugoshin-2 is essential for the completion of meiosis but not for mitotic cell division in mice. Genes Dev 2008: 22: 2400–2413.
14. Yun Y, Lane SI, Jones KT. Premature dyad separation in meiosis II is the major segregation error with maternal age in mouse oocytes. Development 2014: 141: 199–208.
15. Le Quesne SP, Williams HJ, James C et al. STAG3 truncating variant as the cause of primary ovarian insufficiency. Eur J Hum Genet 2016: 24: 135–138.
16. Caburet S, Arboleda VA, Llano E et al. Mutant cohesin in premature ovarian failure. N Engl J Med 2014: 370: 943–949.
17. Newman WG, Friedman TB, Conway GS. Perrault syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, WA, University of Washington, 2014.
18. Venkatesh T, Suresh PS, Tsutsumi R. New insights into the genetic basis of infertility. Appl Clin Genet 2014: 7: 235–243.
19. Schaffer AA. Digenic inheritance in medical genetics. J Med Genet 2013: 50: 641–652.
20. Yang Y, Muzny DM, Reid JG et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013: 369: 1502–1511.
21. Opitz JM, Herrmann J, Pettersen JC et al. Terminological, diagnostic, nosological, and anatomical developmental aspects of developmental defects in man. Adv Hum Genet 1979: 9: 71–164.
22. Kosova G, Scott NM, Niederberger C et al. Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet 2012: 90: 950–961.
23. Griffith AJ, Friedman TB. Hereditary hearing loss. In: Wackym PA, Snow JB Jr, eds. Ballenger's Otorhinolaryngology Head and Neck Surgery, 18th edn. Raleigh, People's Medical Publishing House-USA, 2016: 329–345.