Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Hossein Najmabadi; Mohammad Mahdi Motazacker; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Wei Chen; Farkhondeh Behjati; Valeh Hadavi; Sahar Esmaeeli Nieh; Seyedeh Sedigheh Abedini; Reza Vazifehmand; Saghar Ghasemi Firouzabadi; Payman Jamali; Masoumeh Falah; Seyed Morteza Seifati; Annette Grüters; Steffen Lenzner; Lars R. Jensen; Franz Rüschendorf; Andreas W. Kuss; H. Hilger Ropers

doi:https://doi.org/10.1007/s00439-006-0292-0

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Hossein Najmabadi, Mohammad Mahdi Motazacker, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Wei Chen, Farkhondeh Behjati, Valeh Hadavi, Sahar Esmaeeli Nieh, Seyedeh Sedigheh Abedini, Reza Vazifehmand, Saghar Ghasemi Firouzabadi, Payman Jamali, Masoumeh Falah, Seyed Morteza Seifati, Annette Grüters, Steffen Lenzner, Lars R. Jensen, Franz Rüschendorf, Andreas W. KussH. Hilger Ropers

Experimental Vascular Medicine (AMC)

Research output: Contribution to journal › Review article › Academic › peer-review

91 Citations (Scopus)

Abstract

Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases

Original language	English
Pages (from-to)	43-48
Journal	Human genetics
Volume	121
Issue number	1
DOIs	https://doi.org/10.1007/s00439-006-0292-0
Publication status	Published - 2007

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https://doi.org/10.1007/s00439-006-0292-0

Cite this

Najmabadi, H., Motazacker, M. M., Garshasbi, M., Kahrizi, K., Tzschach, A., Chen, W., Behjati, F., Hadavi, V., Nieh, S. E., Abedini, S. S., Vazifehmand, R., Firouzabadi, S. G., Jamali, P., Falah, M., Seifati, S. M., Grüters, A., Lenzner, S., Jensen, L. R., Rüschendorf, F., ... Ropers, H. H. (2007). Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human genetics, 121(1), 43-48. https://doi.org/10.1007/s00439-006-0292-0

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title = "Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci",

abstract = "Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases",

author = "Hossein Najmabadi and Motazacker, {Mohammad Mahdi} and Masoud Garshasbi and Kimia Kahrizi and Andreas Tzschach and Wei Chen and Farkhondeh Behjati and Valeh Hadavi and Nieh, {Sahar Esmaeeli} and Abedini, {Seyedeh Sedigheh} and Reza Vazifehmand and Firouzabadi, {Saghar Ghasemi} and Payman Jamali and Masoumeh Falah and Seifati, {Seyed Morteza} and Annette Gr{\"u}ters and Steffen Lenzner and Jensen, {Lars R.} and Franz R{\"u}schendorf and Kuss, {Andreas W.} and Ropers, {H. Hilger}",

year = "2007",

doi = "https://doi.org/10.1007/s00439-006-0292-0",

language = "English",

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pages = "43--48",

journal = "Human genetics",

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Najmabadi, H, Motazacker, MM, Garshasbi, M, Kahrizi, K, Tzschach, A, Chen, W, Behjati, F, Hadavi, V, Nieh, SE, Abedini, SS, Vazifehmand, R, Firouzabadi, SG, Jamali, P, Falah, M, Seifati, SM, Grüters, A, Lenzner, S, Jensen, LR, Rüschendorf, F, Kuss, AW & Ropers, HH 2007, 'Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci', Human genetics, vol. 121, no. 1, pp. 43-48. https://doi.org/10.1007/s00439-006-0292-0

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. / Najmabadi, Hossein; Motazacker, Mohammad Mahdi; Garshasbi, Masoud et al.
In: Human genetics, Vol. 121, No. 1, 2007, p. 43-48.

Research output: Contribution to journal › Review article › Academic › peer-review

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T1 - Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

AU - Najmabadi, Hossein

AU - Motazacker, Mohammad Mahdi

AU - Garshasbi, Masoud

AU - Kahrizi, Kimia

AU - Tzschach, Andreas

AU - Chen, Wei

AU - Behjati, Farkhondeh

AU - Hadavi, Valeh

AU - Nieh, Sahar Esmaeeli

AU - Abedini, Seyedeh Sedigheh

AU - Vazifehmand, Reza

AU - Firouzabadi, Saghar Ghasemi

AU - Jamali, Payman

AU - Falah, Masoumeh

AU - Seifati, Seyed Morteza

AU - Grüters, Annette

AU - Lenzner, Steffen

AU - Jensen, Lars R.

AU - Rüschendorf, Franz

AU - Kuss, Andreas W.

AU - Ropers, H. Hilger

PY - 2007

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N2 - Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases

AB - Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases

U2 - https://doi.org/10.1007/s00439-006-0292-0

DO - https://doi.org/10.1007/s00439-006-0292-0

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