SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjøholm, Andres Server, Lena Samuelsson, Arnold Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon Teague, Sarah Edkins & 7 others Jozef Gecz, Gillian Turner, F. Lucy Raymond, Charles Schwartz, Roger E. Stevenson, Dag E. Undlien, Petter Strømme

Research output: Contribution to journalArticle

137 Citations (Scopus)

Abstract

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na+/H+ exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

LanguageEnglish
Pages1003-1010
Number of pages8
JournalAmerican Journal of Human Genetics
Volume82
Issue number4
DOIs
Publication statusPublished - 11 Apr 2008
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Gilfillan, Gregor D. ; Selmer, Kaja K. ; Roxrud, Ingrid ; Smith, Raffaella ; Kyllerman, Mårten ; Eiklid, Kristin ; Kroken, Mette ; Mattingsdal, Morten ; Egeland, Thore ; Stenmark, Harald ; Sjøholm, Hans ; Server, Andres ; Samuelsson, Lena ; Christianson, Arnold ; Tarpey, Patrick ; Whibley, Annabel ; Stratton, Michael R. ; Futreal, P. Andrew ; Teague, Jon ; Edkins, Sarah ; Gecz, Jozef ; Turner, Gillian ; Raymond, F. Lucy ; Schwartz, Charles ; Stevenson, Roger E. ; Undlien, Dag E. ; Strømme, Petter. / SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. In: American Journal of Human Genetics. 2008 ; Vol. 82, No. 4. pp. 1003-1010.
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abstract = "Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na+/H+ exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.",
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Gilfillan, GD, Selmer, KK, Roxrud, I, Smith, R, Kyllerman, M, Eiklid, K, Kroken, M, Mattingsdal, M, Egeland, T, Stenmark, H, Sjøholm, H, Server, A, Samuelsson, L, Christianson, A, Tarpey, P, Whibley, A, Stratton, MR, Futreal, PA, Teague, J, Edkins, S, Gecz, J, Turner, G, Raymond, FL, Schwartz, C, Stevenson, RE, Undlien, DE & Strømme, P 2008, 'SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome', American Journal of Human Genetics, vol. 82, no. 4, pp. 1003-1010. https://doi.org/10.1016/j.ajhg.2008.01.013

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. / Gilfillan, Gregor D.; Selmer, Kaja K.; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjøholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R.; Futreal, P. Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F. Lucy; Schwartz, Charles; Stevenson, Roger E.; Undlien, Dag E.; Strømme, Petter.

In: American Journal of Human Genetics, Vol. 82, No. 4, 11.04.2008, p. 1003-1010.

Research output: Contribution to journalArticle

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AU - Gilfillan, Gregor D.

AU - Selmer, Kaja K.

AU - Roxrud, Ingrid

AU - Smith, Raffaella

AU - Kyllerman, Mårten

AU - Eiklid, Kristin

AU - Kroken, Mette

AU - Mattingsdal, Morten

AU - Egeland, Thore

AU - Stenmark, Harald

AU - Sjøholm, Hans

AU - Server, Andres

AU - Samuelsson, Lena

AU - Christianson, Arnold

AU - Tarpey, Patrick

AU - Whibley, Annabel

AU - Stratton, Michael R.

AU - Futreal, P. Andrew

AU - Teague, Jon

AU - Edkins, Sarah

AU - Gecz, Jozef

AU - Turner, Gillian

AU - Raymond, F. Lucy

AU - Schwartz, Charles

AU - Stevenson, Roger E.

AU - Undlien, Dag E.

AU - Strømme, Petter

PY - 2008/4/11

Y1 - 2008/4/11

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AB - Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na+/H+ exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

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