Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation

Clinical Genetics

Volumn 88, Issue 5, 2015, Pages 489-493

  Rosti, R O ^a   Uyguner, Z O ^b   Nazarenko, I ^c   Bekerecioglu, M ^d   Cadilla, C L ^e   Ozgur, H ^b   Lee, B H ^c,f   Aggarwal, A K ^c   Pehlivan, S ^b   Desnick, R J ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^e UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

^f University of Ulsan College of Medicine   (South Korea)

Author keywords

bHLH domain; Facial development; Inborn error of development; Missense mutation; Molecular modeling; Setleis syndrome; TWIST2

Indexed keywords

DIMER; GENOMIC DNA; LEUCINE; PROLINE; TRANSCRIPTION FACTOR TWIST; TRANSCRIPTION FACTOR TWIST2; UNCLASSIFIED DRUG; REPRESSOR PROTEIN; TWIST RELATED PROTEIN 1; TWIST2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DIMERIZATION; ECTODERMAL DYSPLASIA; FEMALE; FRONTAL BOSSING; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; JAW MALFORMATION; MALE; MICROTIA; MISSENSE MUTATION; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; SCANTY HAIR; SCAR FORMATION; SCHOOL CHILD; SETLEIS SYNDROME; SIBLING; WILD TYPE; CAUCASIAN; COMPUTER SIMULATION; CRYSTALLOGRAPHY; FOCAL DERMAL HYPOPLASIA; GENETICS; METABOLISM; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; PROTEIN MOTIF; SEQUENCE ALIGNMENT; SKIN DISEASES; TURKEY;

ADOLESCENT; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; CHILD; COMPUTER SIMULATION; CRYSTALLOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FOCAL DERMAL HYPOPLASIA; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; REPRESSOR PROTEINS; SEQUENCE ALIGNMENT; SKIN DISEASES; TURKEY; TWIST-RELATED PROTEIN 1;

EID: 84943352869     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12539     Document Type: Article

References (18)

1. Setleis H, Kramer B, Valcarcel M, Einhorn AH. Congenital ectodermal dysplasia of the face. Pediatrics 1963: 32: 540-548.
2. Kowalski DC, Fenske NA. The focal facial dermal dysplasias: report of a kindred and a proposed new classification. J Am Acad Dermatol 1992: 27: 575-582.
3. Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A et al. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. J Med Genet 2011: 48: 716-720.
4. Tukel T, Sosic D, Al-Gazali LI et al. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet 2010: 87: 289-296.
5. Barnes RM, Firulli AB. A twist of insight - the role of Twist-family bHLH factors in development. Int J Dev Biol 2009: 53: 909-924.
6. Franco HL, Casasnovas J, Rodriguez-Medina JR, Cadilla CL. Redundant or separate entities? Roles of Twist1 and Twist2 as molecular switches during gene transcription. Nucleic Acids Res 2011: 39: 1177-1186.
7. Castanon I, Baylies MK. A Twist in fate: evolutionary comparison of Twist structure and function. Gene 2002: 287: 11-22.
8. Li L, Cserjesi P, Olson EN. Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis. Dev Biol 1995: 172: 280-292.
9. Sosic D, Richardson JA, Yu K, Ornitz DM, Olson EN. Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity. Cell 2003: 112: 169-180.
10. Girisha KM, Bidchol AM, Sarpangala MK, Satyamoorthy K. A novel frameshift mutation in TWIST2 Gene Causing Setleis syndrome. Indian J Pediatr 2013: 81: 302-304.
11. McGeoch AH, Reed WB. Familial focal facial dermal dysplasia. Arch Dermatol 1973: 107: 591-595.
12. McGeoch AH, Reed WB. Preliminary report on familial focal facial dermal dysplasia. Australas J Dermatol 1971: 12: 97-100.
13. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997: 18: 2714-2723.
14. Arnold K, Bordoli L, Kopp J, Schwede T. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 2006: 22: 195-201.
15. Schwede T, Kopp J, Guex N, Peitsch MC. SWISS-MODEL: an automated protein homology-modeling server. Nucleic Acids Res 2003: 31: 3381-3385.
16. Ferre-D'Amare AR, Prendergast GC, Ziff EB, Burley SK. Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain. Nature 1993: 363: 38-45.
17. al-Gazali LI, al-Talabani J. Setleis syndrome: autosomal recessive or autosomal dominant inheritance? Clin Dysmorphol 1996: 5: 249-253.
18. Franco HL, Casasnovas JJ, Leon RG et al. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis syndrome patients cause dysregulation of periostin. Int J Biochem Cell Biol 2011: 43: 1523-1531.