Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

O.T. Betsalel; J.M. van de Kamp; C. Martinez-Munoz; E.H. Rosenberg; A.P.M. de Brouwer; P.J.W. Pouwels; M.S. van der Knaap; G.M.S. Mancini; C.A.J.M. Jakobs; B.C.J. Hamel; G.S. Salomons

doi:10.1007/s10048-008-0125-5

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

O.T. Betsalel, J.M. van de Kamp, C. Martinez-Munoz, E.H. Rosenberg, A.P.M. de Brouwer, P.J.W. Pouwels, M.S. van der Knaap, G.M.S. Mancini, C.A.J.M. Jakobs, B.C.J. Hamel, G.S. Salomons

Research output: Contribution to Journal › Article › Academic › peer-review

Abstract

Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene. With the use of direct DNA sequencing, the mutation was also found in the brother of the proband, but not in their mother. However, by analyzing EDTA blood of the mother with denaturing high-performance liquid chromatography (DHPLC), we could show that the mother displays low-level somatic mosaicism for the three base-pair deletion. This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation. © 2008 Springer-Verlag.

Original language	English
Pages (from-to)	183-190
Journal	Neurogenetics
Volume	9
Issue number	3
DOIs	https://doi.org/10.1007/s10048-008-0125-5
Publication status	Published - 2008

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Betsalel, O. T., van de Kamp, J. M., Martinez-Munoz, C., Rosenberg, E. H., de Brouwer, A. P. M., Pouwels, P. J. W., van der Knaap, M. S., Mancini, G. M. S., Jakobs, C. A. J. M., Hamel, B. C. J., & Salomons, G. S. (2008). Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics, 9(3), 183-190. https://doi.org/10.1007/s10048-008-0125-5

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title = "Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency",

abstract = "Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene. With the use of direct DNA sequencing, the mutation was also found in the brother of the proband, but not in their mother. However, by analyzing EDTA blood of the mother with denaturing high-performance liquid chromatography (DHPLC), we could show that the mother displays low-level somatic mosaicism for the three base-pair deletion. This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation. {\textcopyright} 2008 Springer-Verlag.",

author = "O.T. Betsalel and {van de Kamp}, J.M. and C. Martinez-Munoz and E.H. Rosenberg and {de Brouwer}, A.P.M. and P.J.W. Pouwels and {van der Knaap}, M.S. and G.M.S. Mancini and C.A.J.M. Jakobs and B.C.J. Hamel and G.S. Salomons",

year = "2008",

doi = "10.1007/s10048-008-0125-5",

language = "English",

volume = "9",

pages = "183--190",

journal = "Neurogenetics",

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Betsalel, OT, van de Kamp, JM, Martinez-Munoz, C, Rosenberg, EH, de Brouwer, APM, Pouwels, PJW, van der Knaap, MS, Mancini, GMS, Jakobs, CAJM, Hamel, BCJ & Salomons, GS 2008, 'Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency', Neurogenetics, vol. 9, no. 3, pp. 183-190. https://doi.org/10.1007/s10048-008-0125-5

TY - JOUR

T1 - Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

AU - Betsalel, O.T.

AU - van de Kamp, J.M.

AU - Martinez-Munoz, C.

AU - Rosenberg, E.H.

AU - de Brouwer, A.P.M.

AU - Pouwels, P.J.W.

AU - van der Knaap, M.S.

AU - Mancini, G.M.S.

AU - Jakobs, C.A.J.M.

AU - Hamel, B.C.J.

AU - Salomons, G.S.

PY - 2008

Y1 - 2008

N2 - Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene. With the use of direct DNA sequencing, the mutation was also found in the brother of the proband, but not in their mother. However, by analyzing EDTA blood of the mother with denaturing high-performance liquid chromatography (DHPLC), we could show that the mother displays low-level somatic mosaicism for the three base-pair deletion. This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation. © 2008 Springer-Verlag.

AB - Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene. With the use of direct DNA sequencing, the mutation was also found in the brother of the proband, but not in their mother. However, by analyzing EDTA blood of the mother with denaturing high-performance liquid chromatography (DHPLC), we could show that the mother displays low-level somatic mosaicism for the three base-pair deletion. This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation. © 2008 Springer-Verlag.

U2 - 10.1007/s10048-008-0125-5

DO - 10.1007/s10048-008-0125-5

M3 - Article

SN - 1364-6745

VL - 9

SP - 183

EP - 190

JO - Neurogenetics

JF - Neurogenetics

IS - 3

ER -

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Abstract

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