Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

European Journal of Human Genetics

Volumn 22, Issue 9, 2014, Pages 1145-1148

  Pehlivan, Davut ^a   Karaca, Ender ^a   Aydin, Hatip ^b   Beck, Christine R ^a   Gambin, Tomasz ^a   Muzny, Donna M ^a   Bilge Geckinli, B ^b   Karaman, Ali ^b   Jhangiani, Shalini N ^a   Gibbs, Richard A ^a   Lupski, James R ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Center of Genetics Diagnosis Zeynep Kamil Maternity and Children's Training and Research Hospital ^*  (Turkey)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

cerebro facio thoracic dysplasia; TMCO1; whole exome sequencing and splice donor mutation

Indexed keywords

COMPLEMENTARY DNA; PROTEIN; TRANSMEMBRANE AND COILED COIL DOMAINS 1; UNCLASSIFIED DRUG;

ALLELE; APGAR SCORE; ARTICLE; BIRTH WEIGHT; BODY WEIGHT; BRACHYCEPHALY; BRAIN MALFORMATION; CASE REPORT; CEREBRO FACIO THORACIC DYSPLASIA; CEREBROVASCULAR MALFORMATION; CHILD; CLINODACTYLY; CODON; CONGENITAL HEART MALFORMATION; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; DENVER DEVELOPMENTAL SCREENING TEST; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; EAR MALFORMATION; EPICANTHUS; EXON; EYEBROW; FACE; FACE MALFORMATION; FLATFOOT; FOLLOW UP; FOREHEAD; FRONTAL BOSSING; GENE MUTATION; GENETIC DISORDER; HUMAN; HYDRAMNIOS; HYDROCEPHALUS; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; KIDNEY AGENESIS; LATERAL BRAIN VENTRICLE; LONG PHILTRUM; LOW SET EAR; MACROCEPHALY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGNATHIA; MUSCLE HYPOTONIA; NECK MALFORMATION; NEUROIMAGING; NONSENSE MEDIATED MRNA DECAY; NOSE APEX; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PALATE; PALPEBRAL FISSURE; PHYSICAL EXAMINATION; PREGNANCY; PREMATURITY; PRIMIGRAVIDA; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RIB MALFORMATION; SCHOOL CHILD; SKELETON MALFORMATION; STOP CODON; THORAX MALFORMATION; THORAX RADIOGRAPHY; TRANSMEMBRANE AND COILED COIL DOMAINS 1 DEFECT SYNDROME; VERTEBRA; VERTEBRA MALFORMATION; WHOLE EXOME SEQUENCING;

EID: 84928721781     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.291     Document Type: Article

References (14)

1. Pascual-Castroviejo I, Santolaya JM, Martin VL, Rodriguez-Costa T, Tendero A, Mulas F: Cerebro-facio-thoracic dysplasia: report of three cases. Dev Med Child Neurol 1975; 17: 343-351.
2. Philip N, Guala A, Moncla A, Monlouis M, Ayme S, Giraud F: Cerebrofaciothoracic dysplasia: a new family. J Med Genet 1992; 29: 497-499.
3. Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen Jr MM: Cerebrofaciothoracic syndrome. Am J Med Genet 1996; 61: 152-153.
4. Kanaka-Gantenbein C, Fryssira H, Chrousos G, Mastorakos G: Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings. Am J Med Genet A 2004; 129A: 330.
5. Pascual-Castroviejo I, Pascual Pascual SI, Velazquez-Fragua R: [Cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome): presentation of two new patients]. Neurologia 2007; 22: 401-405.
6. Cilliers D, Alanay Y, Boduroglu K, Utine E, Tuncbilek E, Clayton-Smith J: Cerebro-facio-thoracic dysplasia: expanding the phenotype. Clin Dysmorphol 2007; 16: 121-125.
7. Rufo-Campos M, Riveros-Huckstadt P, RodrIguez-Criado G, Hernandez-Soto R: Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome). Brain Dev 2004; 26: 209-212.
8. Smigiel R, Barg E, Gabrysz M, Szpich E, Sasiadek M: A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism. Clin Dysmorphol 2012; 21: 167-169.
9. Cortesi A, Rossi M, Mazzi M et al: An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation. Clin Dysmorphol 2013; 22: 115-117.
10. Bouzas EA, Karadimas P, Kanaka-Gantenbein C, Papastathopoulos C, Dimitrakos S, Mastorakos G: Ophthalmologic findings in cerebrofaciothoracic dysplasia. J Pediatr Ophthalmol Strabismus 2005; 42: 47-51.
11. Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H: Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci USA 2010; 107: 258-263.
12. Caglayan A, Per H, Akgumus G et al: Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet 2013; 84: 394-395.
13. Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ et al: Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med 2013; 5: 57.
14. Bainbridge MN, Hu H, Muzny DM et al: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med 2013; 5: 11.