Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Shoaib Ur Rehman; Shahid Mahmood Baig; Hans Eiberg; Sijad Ur Rehman; Ilyas Ahmad; Naveed Altaf Malik; Niels Tommerup; Lars Hansen

doi:10.1007/s10048-011-0286-5

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Shoaib Ur Rehman, Shahid Mahmood Baig, Hans Eiberg, Sijad Ur Rehman, Ilyas Ahmad, Naveed Altaf Malik, Niels Tommerup^*, Lars Hansen

^*Corresponding author for this work

5 Citations (Scopus)

Abstract

Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive mental retardation (NS-ARMR). The affected individuals showed low IQ and cognitive impairment without any neurological, skeletal, and biochemical abnormalities. All known NS-ARMR genes were excluded by STS markers, so autozygosity mapping by microarray single-nucleotide polymorphism (SNP) analysis were done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z∈=∈3.31 was calculated for the mapped region. These results suggest a novel genetic locus, MRT17, for NS-ARMR.

Original language	English
Journal	Neurogenetics
Volume	12
Issue number	3
Pages (from-to)	247-251
Number of pages	5
ISSN	1364-6745
DOIs	https://doi.org/10.1007/s10048-011-0286-5
Publication status	Published - 08.2011
Externally published	Yes

Funding

The family is thanked for its willingness to participate in this study. We are thankful to Dr. Imtiaz A. Dogar, Psychiatry and Behavioral Science Department, PMC, Faisalabad, Pakistan for the psychological examination of the patients and Miraj ud-din, Punjab Medical College, Faisalabad for the technical and clinical support. Dr. Rubina Tabassum (NIBGE) is thanked for the karyotyping. The project was hosted by Human Molecular Genetics Laboratory, NIBGE, Faisalabad, Pakistan and the Wilhelm Johannsen Centre for Functional Genome Research (WJC) and RC-Link, ICMM. WJC is established by the Danish National Research Foundation and RC-Link is supported by the Danish Medical Research Council. Shoaib ur Rehman was financially supported for this research by Higher Education Commission (HEC) Pakistan, by WJC and by a research fellowship from EMBO.

Research Areas and Centers

Research Area: Medical Genetics

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10.1007/s10048-011-0286-5

Cite this

@article{b84411f51bed406ea115318c47e92a51,

title = "Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel",

abstract = "Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25\% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive mental retardation (NS-ARMR). The affected individuals showed low IQ and cognitive impairment without any neurological, skeletal, and biochemical abnormalities. All known NS-ARMR genes were excluded by STS markers, so autozygosity mapping by microarray single-nucleotide polymorphism (SNP) analysis were done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z∈=∈3.31 was calculated for the mapped region. These results suggest a novel genetic locus, MRT17, for NS-ARMR.",

author = "Rehman, \{Shoaib Ur\} and Baig, \{Shahid Mahmood\} and Hans Eiberg and Rehman, \{Sijad Ur\} and Ilyas Ahmad and Malik, \{Naveed Altaf\} and Niels Tommerup and Lars Hansen",

note = "Funding Information: The family is thanked for its willingness to participate in this study. We are thankful to Dr. Imtiaz A. Dogar, Psychiatry and Behavioral Science Department, PMC, Faisalabad, Pakistan for the psychological examination of the patients and Miraj ud-din, Punjab Medical College, Faisalabad for the technical and clinical support. Dr. Rubina Tabassum (NIBGE) is thanked for the karyotyping. The project was hosted by Human Molecular Genetics Laboratory, NIBGE, Faisalabad, Pakistan and the Wilhelm Johannsen Centre for Functional Genome Research (WJC) and RC-Link, ICMM. WJC is established by the Danish National Research Foundation and RC-Link is supported by the Danish Medical Research Council. Shoaib ur Rehman was financially supported for this research by Higher Education Commission (HEC) Pakistan, by WJC and by a research fellowship from EMBO. ",

year = "2011",

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doi = "10.1007/s10048-011-0286-5",

language = "English",

volume = "12",

pages = "247--251",

journal = "Neurogenetics",

issn = "1364-6745",

publisher = "Springer Science and Business Media Deutschland GmbH",

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AU - Rehman, Shoaib Ur

AU - Baig, Shahid Mahmood

AU - Eiberg, Hans

AU - Rehman, Sijad Ur

AU - Ahmad, Ilyas

AU - Malik, Naveed Altaf

AU - Tommerup, Niels

AU - Hansen, Lars

N1 - Funding Information: The family is thanked for its willingness to participate in this study. We are thankful to Dr. Imtiaz A. Dogar, Psychiatry and Behavioral Science Department, PMC, Faisalabad, Pakistan for the psychological examination of the patients and Miraj ud-din, Punjab Medical College, Faisalabad for the technical and clinical support. Dr. Rubina Tabassum (NIBGE) is thanked for the karyotyping. The project was hosted by Human Molecular Genetics Laboratory, NIBGE, Faisalabad, Pakistan and the Wilhelm Johannsen Centre for Functional Genome Research (WJC) and RC-Link, ICMM. WJC is established by the Danish National Research Foundation and RC-Link is supported by the Danish Medical Research Council. Shoaib ur Rehman was financially supported for this research by Higher Education Commission (HEC) Pakistan, by WJC and by a research fellowship from EMBO.

PY - 2011/8

Y1 - 2011/8

N2 - Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive mental retardation (NS-ARMR). The affected individuals showed low IQ and cognitive impairment without any neurological, skeletal, and biochemical abnormalities. All known NS-ARMR genes were excluded by STS markers, so autozygosity mapping by microarray single-nucleotide polymorphism (SNP) analysis were done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z∈=∈3.31 was calculated for the mapped region. These results suggest a novel genetic locus, MRT17, for NS-ARMR.

AB - Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive mental retardation (NS-ARMR). The affected individuals showed low IQ and cognitive impairment without any neurological, skeletal, and biochemical abnormalities. All known NS-ARMR genes were excluded by STS markers, so autozygosity mapping by microarray single-nucleotide polymorphism (SNP) analysis were done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z∈=∈3.31 was calculated for the mapped region. These results suggest a novel genetic locus, MRT17, for NS-ARMR.

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DO - 10.1007/s10048-011-0286-5

M3 - Journal articles

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AN - SCOPUS:80052708719

SN - 1364-6745

VL - 12

SP - 247

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JO - Neurogenetics

JF - Neurogenetics

IS - 3

ER -

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Abstract

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