Deep sequencing reveals 50 novel genes for recessive cognitive disorders (Q48884202)

16 February 2018

title

Deep sequencing reveals 50 novel genes for recessive cognitive disorders (English)

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author

Hossein Najmabadi

1

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Wei Chen

6

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Farkhondeh Behjati

8

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Vera M. Kalscheuer

40

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Masoumeh Falah

Masoumeh Falah

38

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Masoud Garshasbi

Masoud Garshasbi

3

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Stefan Haas

Stefan Haas

9

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Reinhard Ullmann

41

Reinhard Ullmann

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Imma Rost

31

Imma Rost

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Bettina Lipkowitz

24

Bettina Lipkowitz

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Luciana Musante

39

Luciana Musante

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Tomasz Zemojtel

4

Tomasz Zemojtel

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Anna Rajab

35

Anna Rajab

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author name string

Hao Hu

2

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Seyedeh Sedigheh Abedini

5

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Masoumeh Hosseini

7

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Payman Jamali

10

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Agnes Zecha

11

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Marzieh Mohseni

12

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Lucia Püttmann

13

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Leyla Nouri Vahid

14

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Corinna Jensen

15

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Lia Abbasi Moheb

16

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Melanie Bienek

17

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Farzaneh Larti

18

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Ines Mueller

19

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Robert Weissmann

20

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Hossein Darvish

21

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Klaus Wrogemann

22

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Valeh Hadavi

23

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Sahar Esmaeeli-Nieh

25

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Dagmar Wieczorek

26

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Roxana Kariminejad

27

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Saghar Ghasemi Firouzabadi

28

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Monika Cohen

29

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Zohreh Fattahi

30

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Faezeh Mojahedi

32

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Christoph Hertzberg

33

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Atefeh Dehghan

34

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Mohammad Javad Soltani Banavandi

36

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Julia Hoffer

37

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Andreas Walter Kuss

42

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Andreas Tzschach

43

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Kimia Kahrizi

44

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H Hilger Ropers

45

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language of work or name

English

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publication date

21 September 2011

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16 February 2018

published in

Nature

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volume

478

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issue

7367

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page(s)

57-63

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Genetics of Early Onset Cognitive Impairment

cites work

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

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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

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A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

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Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

21 January 2018

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Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

21 January 2018

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

21 January 2018

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A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

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Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online

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The novel BTB/POZ and zinc finger factor Zbtb45 is essential for proper glial differentiation of neural and oligodendrocyte progenitor cells

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Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects

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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation

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Human CNK1 acts as a scaffold protein, linking Rho and Ras signal transduction pathways

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

21 January 2018

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A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

21 January 2018

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Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

21 January 2018

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Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

21 January 2018

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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

21 January 2018

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The role of neuronal complexes in human X-linked brain diseases

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

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A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

21 January 2018

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Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

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Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

21 January 2018

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

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A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21937992

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE10423

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16 February 2018

Dimensions Publication ID

1022624174

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16 February 2018