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Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Reasons for referral for genetic counseling include a family history of a known or suspected single-gene disorder, chromosomal disorder, or multifactorial condition, carrier status for a genetic disease, consanguinity, advanced maternal age during pregnancy, abnormal screening tests during pregnancy, repeated pregnancy loss or infertility, or teratogen exposure during pregnancy.
Evaluation of Congenital Limb Deficiencies
Published in Nirmal Raj Gopinathan, Clinical Orthopedic Examination of a Child, 2021
Nirmal Raj Gopinathan, Pratik M. Rathod
Also, family history (last three generations’ history with pedigree charts)6 and the marital history of the parents must be obtained. Consanguinity of the marriage plays a direct role in extrapolating the existing genetic deformity in the family. The degree of consanguineous marriage is crucial as the rate of diseases and congenital defects of recessive origin increases many a fold.
Pediatric Central Nervous System Tumors as Phenotypic Manifestation of Cancer Predisposition Syndromes
Published in David A. Walker, Giorgio Perilongo, Roger E. Taylor, Ian F. Pollack, Brain and Spinal Tumors of Childhood, 2020
Giorgio Perilongo, Irene Toldo, Stefano Sartori
Pediatric high-grade glioma can be the hallmark of the CMMRD syndrome.26 CMMRD is a childhood cancer syndrome which, in contrast to the Lynch syndrome which is a monoallelic mutation in MMR genes, is caused by biallelic mutations in these genes.26,27 The loss of MMR gene function in all cells exposes the patient to a large spectrum of malignancies. This syndrome has a high penetrance which reaches a 90% rate during the second decade of life. Almost all children with CMMRD develop malignant tumors; frequently they may suffer from more than one tumor, occurring metachronously or synchronously. High-grade gliomas are the most frequent CNS tumors occurring in these children, with a median age at diagnosis of 10 years, despite cases in infancy having been reported. Being an autosomal-recessive syndrome, consanguinity is a common feature.
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Published in International Journal of Developmental Disabilities, 2023
Watfa Al-Mamari, Ahmed B. Idris, Khalid Al-Thihli, Reem Abdulrahim, Saquib Jalees, Muna Al-Jabri, Ahlam Gabr, Fathiya Al Murshedi, Adila Al Kindy, Intisar Al-Hadabi, Zandrè Bruwer, M. Mazharul Islam, Abeer Alsayegh
The clinic receives referrals from all over the country and accepts children less than 14 years of age. Patients evaluated through the clinic generally follow the diagnostic flowchart depicted in Figure 1. ASD cases were diagnosed based on the Diagnostic Statistical Manual, Fifth Edition (DSM-5) criteria (American Psychiatric Association 2013). A multidisciplinary team, headed by a senior developmental paediatrician, utilized Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule to confirm the diagnosis of ASD. Patients were further clinically characterized by the contribution of a medical geneticist. Clinical and demographic variables were evaluated for their impact on the diagnostic yield. In our study, multiplex ASD refers to families in which multiple individuals were affected, while simplex ASD refers to families in which only a single individual was affected. Syndromic ASD was assigned to patients with a clinically defined pattern of systemic abnormalities and a neurobehavioral phenotype that could include ASD (Fernandez and Scherer 2017). Consanguinity was defined as the parents of the proband being related as second cousins or closer (Bittles 2001).
Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes
Published in Annals of Human Biology, 2023
Tahira Yasmin, Erin M. Andres, Komal Ashraf, Muhammad Asim Raza Basra, Muhammad Hashim Raza
Runs of homozygosity (ROHs) in the genome are defined as long stretches of homozygous genotypes inherited together as haplotypes (Gibson et al. 2006). Long ROHs in family-based genetic studies of inherited disorders may carry a segregating variant allele and indicate a recessive mode of inheritance (Gamsiz et al. 2013). In many populations, consanguineous marriages, or marriages between genetically related individuals, are common, such as in Pakistan, where the consanguinity rate is 62% (Bittles 2001; Jabeen and Malik 2014). There is a higher probability of longer ROHs in consanguineous populations because chromosomal segments with no cross-over events are more likely to be inherited from individuals with shared ancestors. In contrast, ROHs are more likely to be shorter in outbred populations due to high recombination and random assortative mating. Long ROHs are sometimes observed in outbred individuals, perhaps due to linkage disequilibrium (LD), unusual mutation, and recombination rates at specific genomic locations (Gibson et al. 2006; Li et al. 2006).
High levels of blood glutamic acid and ornithine in children with intellectual disability
Published in International Journal of Developmental Disabilities, 2022
Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Abdul Tawab, Fazal e Habib, Muhammad Rafique Asi, Mazhar Iqbal, Fazli Rabbi Awan
Newborn Screening (NBS) program plays a vital role for the early diagnosis and treatment of IEMs including aminoacidopathies. Most of the developed countries have already established their NBS program for the early diagnosis and treatment of many IEMs, however, up till now in Pakistan there is no local or national level NBS program for the screening of IEMs. It is well known that consanguinity plays a vital role in the prevalence of genetic diseases including inherited metabolic disorders, and in Pakistani population there is 70% rate of consanguinity (Ullah et al.2017). Although, no prevalence data is available for these disorders in Pakistan, however, it is very likely that these disorders would have quite high prevalence in Pakistan due to high rate of consanguinity. Therefore, current study was focused on the screening of aminoacidopathies in a cohort of Pakistani Punjabi patients with intellectual disability and suspected for IEMs to find the incidence of such disorders in this region. This study will help to initiate treatment for the identified disorders, which will minimize the burden of these neglected disorders by carrying out further studies for such diseases in Pakistan.