Against all odds: Blended phenotypes of three single-gene defects

European Journal of Human Genetics

Volumn 24, Issue 9, 2016, Pages 1274-1279

  Li, Yong ^a   Salfelder, Anika ^a   Schwab, Karl Otfried ^a   Grünert, Sarah Catharina ^a   Velten, Tanja ^a   Lütjohann, Dieter ^b   Villavicencio Lorini, Pablo ^a,c   Matysiak Scholze, Uta ^a   Zabel, Bernhard ^a   Köttgen, Anna ^a   Lausch, Ekkehart ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

5ALPHA CHOLESTANOL; ABC TRANSPORTER G5; CAMPESTEROL; CHOLESTANOL; EZETIMIBE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LATHOSTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SITOSTEROL; THYROGLOBULIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M6; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL; ABCG5 PROTEIN, HUMAN; LIPOPROTEIN; PHYTOSTEROL; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRPM6 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONGENITAL HYPOTHYROIDISM; CONSANGUINEOUS MARRIAGE; EXOME; EXON SKIPPING; FEMALE; GENE SEQUENCE; HUMAN; HYPERCHOLESTEROLEMIA; HYPOMAGNESEMIA; LIPID BLOOD LEVEL; MALE; MONOGENIC DISORDER; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROGENY; SITOSTEROLEMIA; SPLICING DEFECT; STOP CODON; TRIACYLGLYCEROL BLOOD LEVEL; TURK (PEOPLE); YOUNG ADULT; COMPLICATION; CONSANGUINITY; GENETICS; HYPOTHYROIDISM; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; MAGNESIUM DEFICIENCY; MUTATION; PEDIGREE; RNA SPLICING;

ADOLESCENT; ATP BINDING CASSETTE TRANSPORTER, SUB-FAMILY G, MEMBER 5; CONSANGUINITY; FEMALE; HUMANS; HYPERCHOLESTEROLEMIA; HYPOTHYROIDISM; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; MAGNESIUM DEFICIENCY; MALE; MUTATION; PEDIGREE; PHENOTYPE; PHYTOSTEROLS; RNA SPLICING; THYROGLOBULIN; TRPM CATION CHANNELS; YOUNG ADULT;

EID: 84955589097     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.285     Document Type: Article

References (23)

1. Biesecker LG, Green RC: Diagnostic clinical genome and exome sequencing. N Engl J Med 2014; 370: 2418-2425.
2. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE: Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013; 14: 681-691.
3. Bamshad MJ, Ng SB, Bigham AW et al: Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12: 745-755.
4. YangY, MuznyDM, ReidJGet al: Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013; 369: 1502-1511.
5. Yang Y, Muzny DM, Xia F et al: Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014; 312: 1870-1879.
6. SheridanE, Wright J, SmallNet al: Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study. Lancet 2013; 382: 1350-1359.
7. Lausch E, Janecke A, Bros M et al: Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet 2011; 43: 132-137.
8. Kamphans T, Krawitz PM: GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. Bioinformatics 2012; 28: 2515-2516.
9. Seelow D, Schuelke M: HomozygosityMapper2012-bridging the gap between homozygosity mapping and deep sequencing. Nucleic Acids Res 2012; 40: W516-W520.
10. Mackay DS, Jones PJ, Myrie SB, Plat J, Lutjohann D: Methodological considerations for the harmonization of non-cholesterol sterol bio-analysis. J Chromatogr B Analyt Technol Biomed Life Sci 2014; 957: 116-122.
11. Schlingmann KP, Weber S, Peters M et al: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002; 31: 166-170.
12. Schlingmann KP, Sassen MC, Weber S et al: Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol 2005; 16: 3061-3069.
13. Mannucci L, Guardamagna O, Bertucci P et al: Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. Eur J Clin Invest 2007; 37: 997-1000.
14. Xiong HY, Alipanahi B, Lee LJ et al: RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science 2015; 347: 1254806.
15. Targovnik HM, Citterio CE, Rivolta CM: Thyroglobulin gene mutations in congenital hypothyroidism. Horm Res Paediatr 2011; 75: 311-321.
16. Targovnik HM, Edouard T, Varela V et al: Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. Mol Cell Endocrinol 2012; 348: 313-321.
17. Alzahrani AS, Baitei EY, Zou M, Shi Y: Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. J Clin Endocrinol Metab 2006; 91: 740-746.
18. Ng SB, Buckingham KJ, Lee C et al: Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010; 42: 30-35.
19. Roach JC, Glusman G, Smit AF et al: Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010; 328: 636-639.
20. Makrythanasis P, Nelis M, Santoni FA et al: Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat 2014; 35: 1203-1210.
21. Hansel B, Carrie A, Brun-Druc N et al: Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. Atherosclerosis 2014; 234: 162-168.
22. Valencia CA, Husami A, Holle J et al: Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience. Front Pediatr 2015; 3: 67.
23. Sawyer SL, Hartley T, Dyment DA et al: Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet 2015; e-pub ahead of print 18 August 2015; doi:10.1111/cge.12654.