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Genomics and Hearing Loss: Toward a New Standard of Care?
Published in Stavros Hatzopoulos, Andrea Ciorba, Mark Krumm, Advances in Audiology and Hearing Science, 2020
The X-linked dominant inheritance applies to the transmission of a mutation of a gene on the X chromosome when only one copy of a disease allele on the X chromosome is required for an individual to be affected by the disorder. Both males and females can be affected, although males may be more severely affected because they only carry one copy of the genes found on the X chromosome.
Section 1
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
Rett syndrome is a neurodegenerative disorder occurring only in females, with suspected X-linked dominant inheritance. Development is normal until a year of age, after which acquired microcephaly occurs with delay in motor and language milestones. Characteristic features to remember are sighing respirations with intermittent apnoeas, repetitive hand movements, autistic behaviour, and generalised seizures.
Molecular Genetic Diagnosis of Human Malignant Hyperthermia
Published in S. Tsuyoshi Ohnishi, Tomoko Ohnishi, Malignant Hyperthermia, 1994
Events resembling MH during anesthesia of otherwise normal children may be the first clinical sign of X-linked recessive Duchenne’s muscular dystrophy, with the correct diagnosis disclosed at follow-up biopsy for contacture testing.36 X-linked recessive traits are transmitted by both hemizygous males and heterozygous normal females, but only males are affected, and father to son transmission is never seen. Sex-limited traits in which the mutant gene is autosomal but clinical expression is influenced by X or Y genes (e.g., baldness), may be confused with X-linked recessive inheritance. In X-linked dominant inheritance all daughters of an affected male are affected. No instances of X-linked dominant or recessive inheritance of MH have been reported except as secondary manifestations of other genetic abnormalities.
The distinct manifestation of young-onset amyotrophic lateral sclerosis in China
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021
Jianing Lin, Weineng Chen, Pian Huang, Youna Xie, Minying Zheng, Xiaoli Yao
Although the incidence of ALS rise remarkably in 40 years of age, the existence of juvenile-onset ALS patients suggests the role of genetic factors on the individuals (7). Juvenile-onset ALS is associated with a group of genes, including SETX and SIGMAR in an autosomal-dominant pattern, SPG11 and ALS2 in an autosomal-recessive pattern and UBQLN2 with X-linked dominant inheritance (8,25–28). Besides, FUS gene mutations are the main hereditary factor for ALS patients with juvenile and young onset in Chinese population (22,23). The similarity of earlier disease onset implied the overlap of juvenile-ALS and young-onset ALS in their genetic backgrounds. In our study, we presented a dominant role of SPG11, SETX, and ALS2 genes in young-onset ALS patients. They accounted for 7.69% of all patients for each. Except for one fALS patient harboring SETX, VCP, and NEFH mutations together, the rest patients carrying these genes related to earlier onset were all sporadic.
Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation
Published in Ophthalmic Genetics, 2019
Shigeru Sato, Takeshi Morimoto, Kikuko Hotta, Takashi Fujikado, Kohji Nishida
WES detected eight candidate rare variants in genes related to IRDs in the patient, seven of which were heterozygous and one of which was hemizygous. Six of these candidate genes were eliminated by narrowing down from previously reported inheritance patterns of each gene. One of the remaining candidates was a nonsynonymous variant in HK1 and the other was a nonsynonymous variant in CHM (MIM: ∗300390: NM_000390: c.1255A>G, p.I419V). The HK1 variant had been reported to be a causative mutation of RP79 (MIM: #617460) with autosomal dominant inheritance (3,4,9,10). Although CHM is known to cause choroideremia (MIM: #303100) with an X-linked dominant inheritance pattern, pathogenicity has not yet been reported for the CHM variant present in this patient. Unfortunately, genetic and clinical data were not available from the patient’s family members, making it difficult to exclude the involvement of CHM in the observed phenotype. However, it was thought most likely that the patient’s RP was caused by the detected HK1 mutation.