Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction

Molecular Genetics and Metabolism

Volumn 100, Issue 2, 2010, Pages 198-203

  Chang, Bo ^a,d   Momoi, Nobuo ^b   Shan, Lishen ^a,d   Mitomo, Masaki ^b   Aoyagi, Yoshimichi ^b   Endo, Kisei ^b   Takeda, Izumi ^b   Chen, Rui ^a,d   Xing, Yanlin ^a,d   Yu, Xianyi ^d   Watanabe, Sayaka ^a   Yoshida, Taketoshi ^a   Kanegane, Hirokazu ^a   Tsubata, Shinichi ^e   Bowles, Neil E ^c   Ichida, Fukiko ^a   Miyawaki, Toshio ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

^b FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d CHINA MEDICAL UNIVERSITY   (China)

^e TOYAMA RED CROSS HOSPITAL   (Japan)

Author keywords

Barth syndrome; Gonadal mosaicism; TAZ gene; Ventricular noncompaction

Indexed keywords

GENE PRODUCT; PROTEIN TAZ; UNCLASSIFIED DRUG;

ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; GENE MUTATION; GRANDPARENT; HEART LEFT VENTRICLE; HEART LEFT VENTRICLE NONCOMPACTION; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PARENT; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SIBLING; SYMPTOM;

ASIAN CONTINENTAL ANCESTRY GROUP; BARTH SYNDROME; FATAL OUTCOME; FEMALE; GONADAL DYSGENESIS; HUMANS; INFANT; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MOSAICISM; MUTATION; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 77951961282     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.02.021     Document Type: Article

References (49)

1. Bione S., Adamo P.D., Maestrini E., Gedeon A.K., Bolhuis P.A., and Toniolo D. A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nat. Genet. 12 (1996) 385-389
2. Johnston J., Kelley R.I., Feigenbaum A., Cox G.F., Lyer G.S., Funanage V.L., and Proujansky R. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am. J. Hum.Genet. 61 (1997) 1053-1058
3. Cantlay A.M., Shokrollahi K., Allen J.T., Lunt P.W., Newbury-Ecob R.A., and Steward C.G. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J. Pediatr. 135 (1999) 311-315
4. Bachou T., Giannakopoulos A., Trapali C., Vazeou A., and Kattamis A. A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome. Blood Cells Mol. Dis. 42 (2009) 262-264
5. Sakamoto O., Ohura T., Katsushima Y., Fujiwara I., Ogawa E., Miyabayashi S., and Iinuma K. A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon. Hum. Genet. 109 (2001) 559-563
6. Xing Y., Ichida F., Matsuoka T., Isobe T., Ikemoto Y., Higaki T., Tsuji T., Haneda N., Kuwabara A., Chen R., Futatani T., Tsubata S., Watanabe S., Watanabe K., Hirono K., Uese K., Miyawaki T., Bowles K.R., Bowles N.E., and Towbin J.A. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol. Genet. Metab. 88 (2006) 71-77
7. Bleyl S.B., Mumford B.R., Thompson V., Carey J.C., Pysher T.J., Chin T.K., and Ward K. Neonatal lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am. J. Hum. Genet. 61 (1997) 868-872
8. Chen R., Tsuji T., Ichida F., Bowles K.R., Yu X., Watanabe S., Hirono K., Tsubata S., Hamamichi Y., Ohta J., Imai Y., Bowles N.E., Miyawaki T., and Towbin J.A. Noncompaction study collaborators mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol. Genet. Metab. 77 (2002) 319-325
9. Ichida F., Tsubata S., Bowles K.R., Haneda N., Uese K., Miyawaki T., Dreyer W.J., Messina J., Li H., Bowles N.E., and Towbin J.A. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103 (2001) 1256-1263
10. Bleyl S.B., Mumford B.R., Brown-Harrison M.C., Pagotto L.T., Carey J.C., Pysher T.J., Ward K., and Chin T.K. Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am. J. Med. Genet. 72 (1997) 257-265
11. Neustein H.B., Lurie P.R., Dahms B., and Takahashi M. An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64 (1979) 24-29
12. Barth P.G., Scholte H.R., Berden J.A., Van der Klei-Van Moorsel J.M., Luyt-Houwen I.E., Vant Veer-Korthof E.T., Van der Harten J.J., and Sobotka-Plojhar M.A. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J. Neurol. Sci. 62 (1983) 327-355
13. Chin T.K., Perloff J.K., Williams R.G., Jue K., and Mohrmann R. Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation 82 (1990) 507-513
14. Oechslin E.N., Attenhofer Jost C.H., Rojas J.R., Kaufmann P.A., and Jenni R. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J. Am. Coll. Cardiol. 36 (2000) 493-500
15. Jenni R., Rojas J., and Oechslin E. Isolated noncompaction of the myocardium. N. Engl. J. Med. 340 (1999) 966-967
16. Ritter M., Oechslin E., Sutsch G., Attenhofer C., Schneider J., and Jenni R. Isolated noncompaction of the myocardium in adults. Mayo. Clin. Proc. 72 (1997) 26-31
17. Pignatelli R.H., McMahon C.J., Dreyer W.J., Denfield S.W., Price J., Belmont J.W., Craigen W.J., Wu J., El Said H., Bezold L.I., Clunie S., Fernbach S., Bowles N.E., and Towbin J.A. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation 108 (2003) 2672-2678
18. Ichida F., Hamamichi Y., Miyawaki T., Ono Y., Kamiya T., Akagi T., Hamada H., Hirose O., Isobe T., Yamada K., Kurotobi S., Mito H., Miyake T., Murakami Y., Nishi T., Shinohara M., Seguchi M., Tashiro S., and Tomimatsu H. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J. Am. Coll. Cardiol. 34 (1999) 233-240
19. Jenni R., Oechslin E.N., and van der Loo B. Isolated ventricular noncompaction of the myocardium in adults. Heart 93 (2007) 11-15
20. Richards C.S., Bale S., Bellissimo D.B., Das S., Grody W.W., Hedge M.R., Lyon E., and Ward B.E. Molecular subcommittee of the ACMG laboratory quality assurance committee ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet. Med. 10 (2008) 294-300
21. Tom Strachan, Andrew P. Read, Human Molecular Genetics2, BIOS Scientific Publishers Limited, 1999, Charpter 3, http:/www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=hmg&part=A242.
22. Cohn D.H., Starman B.J., Blumberg B., and Byers P.H. Recurrence of lethal OI due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am. J. Hum. Genet. 46 (1990) 591-601
23. Byers P.H., Tsipouras P., Bonadio J.F., Starman B.J., and Schwartz R.C. Perinatal lethal osteogenesis imperfecta (OI type II): A biochemical heterogeneous disorder usually due to new mutation in the gene for type I collagen. Am. J. Hum. Genet. 42 (1988) 237-248
24. Murray E.W., Giles A.R., and Lillicrap D. Germ line mosaicism causing type IIB Von Willebrand disease. Am. J. Hum. Genet. 50 (1992) 199-207
25. Milewicz D.M., Witz A.M., Smith A.C., Manchester D.K., Waldstein G., and Byers P.H. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. Am. J. Hum. Genet. 53 (1993) 62-70
26. Lázaro C., Ravella A., Gaona A., Volpini V., and Estivill X. Neurofibromatosis type 1 due to germ line mosaicism in a clinically normal father. N. Engl. J. Med. 331 (1994) 1403-1407
27. Wong S.C., Cobben J.M., Hiemstra S., Robinson P.H., and Heeg M. Karsch-Neugebauer syndrome in two sibs with unaffected parents. Am. J. Med. Genet. 75 (1998) 207-210
28. Fryns J.P., Kleczkowska A., Virrevsen H., and vandenBergh H. Germinal mosaicism in achondroplasia: a family with three affected siblings of normal parents. Clin. Genet. 24 (1983) 156-158
29. Reiger C.A., Pauli R.M., and Hall J.G. Achondroplasia: unexpected familial recurrence. Am. J. Med. Genet. 19 (1984) 245-250
30. Rollnick B.R. Germinal mosaicism in Crouzon syndrome. Clin. Genet. 33 (1988) 145-150
31. Navarrete C., Pena R., Penaloza R., and Salamanca F. Germinal mosaicism in Crouzon syndrome: a family with three affected siblings of normal parents. Clin. Genet. 40 (1991) 29-34
32. Allanson J.E. Germinal mosaicism in Apert syndrome. Clin. Genet. 29 (1986) 429-433
33. Tommerup N., Schempp W., Meinecke P., Pedersen S., Bolund L., Brandt C., Goodpasture C., Guldberg P., Held K.R., Reinwein H., Saugstad O.D., Scherer G., Skjeldal O., Toder R., Westvik J., van der Hage C.B., and Wolf U. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat. Genet. 4 (1994) 170-174
34. Ferreiro V., Szijan I., and Giliberto F. Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene. Mol. Diagn. 8 (2004) 115-121
35. Zimowski J.G., Bisko M., and Zaremba J. Germline mosaicism in a family with Duchenne muscular dystrophy. Med. Wieku. Rozwoj. 3 (1999) 133-137
36. Cutler J.A., Mitchell M.J., Smith M.P., and Savidge G.F. Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. Am. J. Med. Genet A 129A (2004) 13-15
37. Gloyn A.L., Cummings E.A., Edghill E.L., Harries L.W., Scott R., Costa T., Temple I.K., Hattersley A.T., and Ellard S. Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J. Clin. Endocrinol Metab. 89 (2004) 3932-3935
38. Wuyts W., Biervliet M., Reyniers E., D'Apice M.R., Novelli G., and Storm K. Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am. J. Med. Genet A. 135 (2005) 66-68
39. Jin Z.B., Gu F., Matsuda H., Yukawa N., Ma X., and Nao-i N. Somatic and gonadal mosaicism in X-linked retinitis pigmentosa. Am. J. Med. Genet. A. 143A (2007) 2544-2548
40. Debeer P., Huysmans C., Van de Ven W.J.M., Fryns J.P., and Devriendt K. Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation. Am. J. Med. Genet. A 134A (2005) 318-320
41. Chiang P.W., Lee N.C., Chien N., Hwu W.L., Spector E., and Tsai A.C. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am. J. Med. Genet. Part A 149A (2009) 1463-1467
42. Mulla W., Garnica A., Rimoin D., Lachman R., McDonald-McGinn D., and Zackai E. Spondyloepiphyseal dysplasia congenita in siblings born to unaffected parents: germ line mosaicism. Am. J. Hum. Genet. 55 (1994) A1819
43. Forissier J.F., Richard P., Briault S., Ledeuil C., Dubourg O., Charbonnier B., Carrier L., Moraine C., Bonne G., Komajda M., Schwartz K., and Hainque B. First description of germline mosaicism in familial hypertrophic cardiomyopathy. J. Med. Genet. 37 (2000) 132-134
44. Bachoo S., and Gibbons R.J. Germline and gonosomal mosaicism in the ATR-X syndrome. Eur. J. Hum. Genet. 7 (1999) 933-936
45. Bowling F., McGown I., McGill J., Cowley D., and Tuchman M. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency. Am. J. Med. Genet. 85 (1999) 452-454
46. Satre V., Monnier N., Berthoin F., Ayuso C., Joannard A., Jouk P.S., Lopez-Pajares I., Megabarne A., Philippe H.J., Plauchu H., Torres M.L., and Lunardi J. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am. J. Hum. Genet. 65 (1999) 68-76
47. Barbosa R.H., Vargas F.R., Aguiar F.C., Ferman S., Lucena E., Bonvicino C.R., and Seuánez H.N. Hereditary retinoblastoma transmitted by maternal germline mosaicism. Pediatr. Blood Cancer 51 (2008) 598-602
48. Zackai E.H., Robin N.H., and McDonald-McGinn D.M. Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism. Am. J. Med. Genet. 69 (1997) 348-351
49. Miller T.E., Estrella E., Myerburg R.J., Garcia de Viera J., Moreno N., Rusconi P., Ahearn M.E., Baumbach L., Kurlansky P., Wolff G., and Bishopric N.H. Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. Circulation 109 (2004) 3029-3034