Topic
Anticipation (genetics)
About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.
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TL;DR: This case indicates that a ‘hopeless abdomen’ is always worth exploring in anticipation of the occasional happy outcome, and is believed to be the largest tumour of this type described in such a young patient.
Abstract: The successful removal of an epithelial hamartoma from the liver of a 7-month-old African child is reported. This hamartoma weighed 1875 g. and is believed to be the largest tumour of this type described in such a young patient. This case indicates that a ‘hopeless abdomen’ is always worth exploring in anticipation of the occasional happy outcome.
6 citations
TL;DR: Previous evidence that certain psychiatric diseases have a genetic component was confirmed and extended and Tourette's syndrome, in which affected individuals suffer uncontrollable tics and involuntarily utter obscenities, is associated with a wide spectrum of behavioural problems.
6 citations
TL;DR: The results suggest that the AAI effect is an essential bias in investigating anticipation, leading to false-positive AAO anticipation results if not taken into account.
6 citations
TL;DR: This paper identified a four generation family in which a variable neurological phenotype including an early onset, non-progressive, and mild cerebellar ataxia segregates together with a balanced reciprocal translocation.
Abstract: Hereditary ataxia is a clinically and genetically heterogenous group of disorders. Most are progressive and associated with other neurological abnormalities. Early onset, non-progressive cerebellar ataxia (OMIM #117360) has been described as a dominantly inherited disorder associated with isolated vermal atrophy1–3 or generalised atrophy of the cerebellum.4,5 This is a rare entity compared with autosomal recessive early onset cerebellar ataxia with retained tendon reflexes (OMIM #212895).6
Various disease genes have been identified using rare disease associated balanced chromosomal rearrangements (DBCRs), for example, translocations or inversions that truncate, delete, or otherwise inactivate genes.7 DBCRs may occur in at least 1% of patients with autosomal dominant disorders caused by haploinsufficiency, and in many girls affected by X linked recessive disorders. During a systematic search for apparently balanced chromosomal rearrangements associated with abnormal phenotypes,7 we identified a four generation family in which a variable neurological phenotype including an early onset, non-progressive, and mild cerebellar ataxia segregates together with a balanced reciprocal translocation.
### Family history
The study was approved by the local ethics committee (no. 1992–2489). The family consists of four generations as shown in fig 1. All family members, except II:2, were personally interviewed and underwent neurological examination by one of us (BS). The affected members in generations III, IV, and V have developed a phenotype of clumsiness starting in early childhood (1–7 years), including gait abnormalities with lurching and frequent falling, which increased upon physical activity. Objective findings included ataxia, dysmetria on finger to nose and/or heel to shin test, tremor, nystagmus, and retained reflexes in the lower limbs. Neurological symptoms and the phenotype of the affected members are presented in table 1. MRI of two of the patients (III:2 and III:4) performed at 49 and 43 years of age, respectively, gave inconclusive results. Anticipation was not observed …
6 citations
Journal Article•
TL;DR: Patients with NMO should be counseled regarding the possibility of subsequent disease onset in family members, particularly parents, with significant differences in calendar or chronological year of onset.
Abstract: Objectives To describe genetic anticipation in a mother and daughter with antiaquaporin 4 (AQP4) antibody-positive neuromyelitisoptica (NMO). Methods Retrospective case review. Results A woman with onset of transverse myelitis at age 38 was found to have a positive AQP4 antibody during work-up of recurrent symptoms. Subsequently, she developed intermittent episodes of monocular vision loss with optic nerve involvement that were treated with intravenous methylprednisolone and chronic rituximab. Eighteen years after initial presentation, her 78-year-old mother, with a history of recurrent urinary tract infections, also developed monocular vision loss and her anti-AQP4 antibody was positive. Previous reports of genetic anticipation in familial NMO are identified and discussed. Conclusions These cases highlight genetic anticipation in familial NMO. Disease onset can occur with a chronological age difference of as much as 40 years between parent and child. Patients with NMO should be counseled regarding the possibility of subsequent disease onset in family members, particularly parents, with significant differences in calendar or chronological year of onset.
6 citations