Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 394-395

  Caglayan, Ao ^a,b   Per, H ^a   Akgumus, G ^a,b   Gumus, H ^a   Baranoski, J ^b   Canpolat, M ^a   Calik, M ^a   Yikilmaz, A ^c   Bilguvar, K ^a,b   Kumandas, S ^a   Gunel, M ^a,b  

^a Department of Neurosurgery ^*  (Turkey)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ERCIYES UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; TRANSMEMBRANE AND COILED COIL DOMAIN CONTAINING PROTEIN 1; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; EQUIPMENT; EXOME; GENE MAPPING; GENE MUTATION; HUMAN; LETTER; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SYNDROME DELINEATION; TMCO1 DEFECT SYNDROME; WHOLE EXOME SEQUENCING;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD; CONSANGUINITY; EXOME; HUMANS; MALE; MEMBRANE PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84883770777     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12088     Document Type: Letter

References (3)

1. 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.
2. Bilguvar K, Ozturk AK, Louvi A et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010: 467: 207-210.
3. Zhang Z, Mo D, Cong P et al. Molecular cloning, expression patterns and subcellular localization of porcine TMCO1 gene. Mol Biol Rep 2010: 37: 1611-1618.