Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR

2021 ◽  
pp. 1-13
Author(s):  
Shoaib-Ur-Rehman ◽  
Raaza Malja Khan ◽  
Rahmat Ali Khan ◽  
Ishtiaq Hussain ◽  
Noor Muhammad ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Birth Defects ◽  
Autosomal Recessive ◽  
Deoxyribonucleic Acid ◽  
Multiple Birth ◽  
Psychological Disturbance ◽  
Autozygosity Mapping ◽  
Cerebral Dysfunction ◽  
Mental Disturbances ◽  
Pakistani Families

Psychological disturbance (PD) or cerebral dysfunction (CD) occupying several clinical areas having defining features of mental retardation. Currently we have designed to investigate heritable heterogeneity in Pakistani consanguineous couples with recessive autosomal intellectual abnormilaties. Department of Biotechnology UST-Bannu and WJC Panum institute University of Copenhagen Denmark from January 2017 to March 2019. Cohort of Three consanguineous families with multiple birth defects was selected from different regions of Pakistan for molecular analysis analysis. All affected individuals in the cohort showed mental disturbances. Deoxyribonucleic acid (DNA) was extracted and subjected to STS (Single tagged sequence) marker analyses to all known non syndromic autosomal recessive mental retardation (NS-ARMR) genes while autozygosity mapping was performed by advanced SNP techniques. STS (Single tagged sequence) marker analyses showed exclusion to all known non syndromic autosomal recessive mental retardation (NS-ARMR) genes. Autozygosity mapping have shown novel nine linkage intervals. Continuous...

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

Neurogenetics ◽  
2011 ◽  
Vol 12 (3) ◽  
pp. 247-251 ◽  
Author(s):  
Shoaib ur Rehman ◽  
Shahid Mahmood Baig ◽  
Hans Eiberg ◽  
Sijad ur Rehman ◽  
Ilyas Ahmad ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Autozygosity Mapping

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

scholarly journals An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

2006 ◽  
Vol 140A (14) ◽  
pp. 1504-1510 ◽  
Author(s):  
Anna Rajab ◽  
Seung-Yun Yoo ◽  
Aiman Abdulgalil ◽  
Salem Kathiri ◽  
Riaz Ahmed ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Mental Retardation ◽  
Autosomal Recessive ◽  
Spastic Cerebral Palsy ◽  
Autosomal Recessive Form ◽  
Recessive Form

scholarly journals Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength

Development ◽  
2021 ◽  
Vol 148 (19) ◽  
Author(s):  
Jennifer H. Kong ◽  
Cullen B. Young ◽  
Ganesh V. Pusapati ◽  
F. Hernán Espinoza ◽  
Chandni B. Patel ◽  
...  
Keyword(s):  
Small Molecules ◽  
Birth Defects ◽  
Birth Defect ◽  
Hedgehog Signaling ◽  
Multiple Birth ◽  
In Utero Exposure ◽  
Membrane Protein Complex ◽  
Protein Target ◽  
Hh Signaling ◽  
Genetic And Environmental Factors

ABSTRACT Birth defects result from interactions between genetic and environmental factors, but the mechanisms remain poorly understood. We find that mutations and teratogens interact in predictable ways to cause birth defects by changing target cell sensitivity to Hedgehog (Hh) ligands. These interactions converge on a membrane protein complex, the MMM complex, that promotes degradation of the Hh transducer Smoothened (SMO). Deficiency of the MMM component MOSMO results in elevated SMO and increased Hh signaling, causing multiple birth defects. In utero exposure to a teratogen that directly inhibits SMO reduces the penetrance and expressivity of birth defects in Mosmo−/− embryos. Additionally, tissues that develop normally in Mosmo−/− embryos are refractory to the teratogen. Thus, changes in the abundance of the protein target of a teratogen can change birth defect outcomes by quantitative shifts in Hh signaling. Consequently, small molecules that re-calibrate signaling strength could be harnessed to rescue structural birth defects.

Fragile Sites on Chromosomes

PEDIATRICS ◽  
1982 ◽  
Vol 69 (1) ◽  
pp. 121-123
Author(s):  
Frederick Hecht ◽  
Thomas W. Glover ◽  
Barbara Kaiser-Hecht
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
Fanconi Anemia ◽  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Fragile Site ◽  
Chromosome Instability ◽  
Chromosome Complement ◽  
Fragile Sites ◽  
Chromosome Fragility

A fragile site on the X chromosome is associated with a common form of mental retardation in males and a proportion of females.1-3 This association was not fully appreciated when the fragile site on the X was first described in 1969,4 but it is crystal-clear today. Chromosome fragility can be random, as in Fanconi anemia, Bloom syndrome, and ataxia-telangiectasia, the chromosome instability syndromes.5 Breaks and rearrangements of chromosomes are seen in these disorders, all of which are autosomal recessive conditions predisposing to cancer. Fragile sites are special spots in the genome where gaps and breaks occur nonrandomly. The balance of the chromosome complement is normal.

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