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Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Autosomal recessive inheritance is when mutation in both alleles of an autosomal disease is necessary to cause disease. An affected individual has two non-functional alleles, one inherited from each carrier parent. An individual carrying a single variant in a recessive gene is unaffected with the condition, but when two individuals are carriers, there is a 25% chance that both variants will be passed on, resulting in an affected child. There may be no family history of a recessive condition when a child is found to be affected. The variant can be passed down generation to generation without ever causing disease until, by random chance, both members of a reproductive couple are carriers, and future offspring are at risk of being affected. Carrier screening can therefore be an effective tool in detecting such carrier couples.
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Inborn errors of metabolism are due to enzyme deficiencies that cause abnormal elevations of intermediary compounds of biochemical pathways in tissues and body fluids, with resultant medical problems. Most have an autosomal recessive inheritance pattern, but a few are X-linked recessive disorders. There are several hundred known inborn errors of metabolism, most of which are very rare (38). However, they are collectively common and affect about 1 in 1000 newborns.
An Approach to Inherited Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Autosomal recessive inheritance of a phenotype is often harder to distinguish from polygenic or nongenetic mechanisms than is autosomal dominant inheritance. The gene contributed to a child by a heterozygous parent is equally likely to be either the gene for the recessive phenotype or its allele; for each child the probability of inheriting from one parent the gene for the recessive phenotype is 1/2. For each child of two heterozygous parents the probability of inheriting the gene for the recessive phenotype from both parents is: 1/2 X 1/2 = 1/4. When sibship sizes are small most persons with the phenotype will have no affected sibs. Furthermore, some sibships who are the offspring of two heterozygous parents will by chance include no individuals who are homozygous for the relevant gene and thus no individuals who manifest the phenotype.
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations
Published in Ophthalmic Genetics, 2021
Ayca Kocaaga, Gunes Cakmak Genc, Sevim Karakas Celık, Rafet Koca, Ahmet Dursun
We also subsequently investigated the association in three SNPs (NOD1 and NOD2 genes) and in one SNP (PYDC2 gene) with clinical manifestations except oral oral aphthae and genital ulcer of BD. We compared our findings between the positive (present) and negative (absent) patients in terms of the clinical manifestations; as well as between the positive patients and the control groups. Genotype distributions among the patient groups were analyzed based on the autosomal recessive inheritance model. In the NOD1 rs2075820 (G/A) polymorphism, the frequency of AA genotype was higher (35.6% vs 14.3) in patients with cardiovascular involvement compared to patients without cardiovascular involvement (p = .044, OR = 4.286; CI = 1.089–16.868, Table 5). There was not any statistically significant difference between groups in the rs2075820 polymorphism for other clinical findings.
CO2 narcosis as a notable cause of premature death in Nakajo-Nishimura syndrome
Published in Modern Rheumatology Case Reports, 2019
Nobuo Kanazawa, Mariko Hara, Tomoyuki Hara, Kayo Kunimoto, Naoya Mikita, Fukumi Furukawa
NNS is a very rare disease, while the first case was reported in Japan as “secondary hypertrophic periostosis with pernio” already in 1939. The autosomal recessive inheritance had been suspected, but rarity of the disease and some patients’ refusal for genetic analyses made identification of the responsible gene delayed. The patients had been uniquely reported from Japan until 2010 when similar cases were reported as JMP and CANDLE syndromes from the United States and Spain, respectively [2,3]. Then, identification of a homozygous PSMB8 mutation was first reported in JMP syndrome in the same year, followed by the similar reports on NNS and CANDLE syndrome [7–9]. So far only the homozygous PSMB8-p.T75M and p.G201V mutation have been identified in patients with JMP syndrome and NNS, respectively, while identification of various mutations including digenic heterozygous mutations in other proteasomal genes, such as PSMA3, PSMB4 and PSMB9, have been detected in CANDLE syndrome patients [10].
Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy
Published in Fetal and Pediatric Pathology, 2018
Erdem Fadiloglu, Gonca Ozten, Canan Unal, Beril Talim, Haluk Topaloglu, Mehmet Sinan Beksac
Merosin-negative muscular dystrophy is an inheritable disease that may involve severe handicaps and lead to infant death. The existence of a prior child with this diagnosis is a risk factor for further pregnancies due to its autosomal recessive inheritance pattern. These families should be counseled about the inheritance pattern of the disease and recurrence risk, and that prenatal diagnostic tests including immunohistochemical methods or DNA analysis are available for assessing subsequent pregnancies (11,12). Immunohistochemistry is accepted as being superior to DNA analysis in merosin-negative conditions due to the existence of an index case and rapid prenatal diagnosis results (13). In cases of a partial merosin deficiency in the index case, molecular studies are recommended for the prenatal diagnosis.