Next-generation diagnostics for inherited skin disorders

Journal of Investigative Dermatology

Volumn 131, Issue 10, 2011, Pages 1971-1973

  Lai Cheong, Joey E ^a   McGrath, John A ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

STAT1 PROTEIN;

ADAMS OLIVER SYNDROME; EXOME; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; GENODERMATOSIS; HOMOZYGOSITY; HUMAN; HUMAN GENOME; HYPOTRICHOSIS; INHERITED SKIN DISEASE; MOLECULAR PATHOLOGY; MUCOCUTANEOUS CANDIDIASIS; NEUTROPENIA; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PHENOTYPE; POIKILODERMA; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE; SUPPURATIVE HIDRADENITIS;

EID: 80052828859     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2011.253     Document Type: Note

References (19)

1. Anastasio N, Ben-Omran T, Teebi A et al. (2010) Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet 87:553-9
2. Bolze A, Byun M, McDonald D et al. (2010) Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 87:873-81
3. Botstein D, Risch N. (2003) Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet 33:228-37 (Pubitemid 36278833)
4. Boztug K, Appaswamy G, Ashikov A et al. (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360:32-43
5. Cullinane AR, Vilboux T, O'Brien K et al. (2011) Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol 131:2017-25
6. Gilissen C, Arts HH, Hoischen A et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 87:418-23
7. Goudie DR, D'Alessandro M, Merriman B et al. (2011) Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet 43:365-9
8. Groves RW, Liu L, Dopping-Hepenstal PJ et al. (2010) A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 130:1551-7
9. Ku CS, Naidoo N, Pawitan Y (2011) Revisiting Mendelian disorders through exome sequencing. Hum Genet 129:351-70
10. Liu L, Okada S, Kong XF et al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 208:1635-48
11. Newton JM, Cohen-Barak O, Hagiwara N et al. (2001) Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 69:981-8 (Pubitemid 33015813)
12. Ng SB, Turner EH, Robertson PD et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272-6
13. Sirmaci A, Walsh T, Akay H et al. (2010) MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet 87:679-86
14. Southgate L, Machado RD, Snape KM et al. (2011) Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 88:574-85
15. Sun Y, Almomani R, Aten E et al. (2010) Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet 87:146-53
16. Volpi L, Roversi G, Colombo EA et al. (2010) Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet 86:72-6
17. Walsh T, Shahin H, Elkan-Miller T et al. (2010) Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 87:90-4
18. Wang B, Yang W, Wen W et al. (2010) Gamma-secretase gene mutations in familial acne inversa. Science 330:1065
19. Zhou C, Zang D, Jin Y et al. (2011) Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat 32:710-4