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Bardet−Biedl Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Besides BBS, gene mutations that lead to ciliary dysfunction are also implicated in other ciliopathies. For example, genetic changes involving BBS14 (CEP290) can also cause Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, and Senior−Loken syndrome (Table 25.1). In addition, BBS may overlap clinically to other syndromes with distinct gene defects (e.g., Alström syndrome containing ALMS1 mutations, and Joubert syndrome containing NPHP1 gene mutations) [13].
Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
This is rarer than hypertrophic cardiomyopathy (around 1 in 2,000 births). Most cases of dilated cardiomyopathy (DCM) are not familial but have a toxic (e.g. alcohol or iron overload), infective, inflammatory or endocrine cause. (Note that iron overload may be associated with other genetic causes, such as haemochromatosis or transfusion for thalassaemia.) In familial cases, less than half have a clear genetic cause. Specific autosomal dominant and X-linked forms are recognised. The dominant forms include mutations affecting sarcomeric or cytoskeletal proteins, lamin A/C and some ion channel proteins. The X-linked Barth syndrome also shows skeletal myopathy and general metabolic changes. Dystrophin-related cardiomyopathies (also X-linked) are another rare group. Mitochondrial disease (including mitochondrial encephalopathy with lactic acidosis and stroke-like episodes [MELAS], myoclonic epilepsy with ragged-red fibres [MERRF] and Kearns-Sayre syndrome) can lead to DCM. Childhood cases may be affected by Alström syndrome, or a mitochondrial disorder, or may be part of a more general metabolic disorder. Families with recessive inheritance are unusual.
Pathophysiology and Clinical Management of Diabetes and Prediabetes
Published in Jeffrey I. Mechanick, Elise M. Brett, Nutritional Strategies for the Diabetic & Prediabetic Patient, 2006
Elliot J. Rayfield, Marilyn V. Valentine
Metabolic abnormalities resulting from insulin receptor apparatus mutations range from mild hyperglycemia to severe diabetes. Some patients have hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN syndrome), which can be associated with polycystic ovary syndrome or hyperthecosis [4]. Other syndromes are associated with extreme insulin resistance [4]: Familial lipodystrophyAcquired lipodystrophyType A insulin resistance syndromeType B insulin resistance syndromeLeprechaunismRabson–Mendenhall syndromeAlström syndrome
Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
Published in Ophthalmic Genetics, 2022
Lijuan Huang, Maosheng Guo, Yunyu Zhou, Tianwei Liang, Ningdong Li
In our patients, not all of them have typical manifestations of Alström syndrome. The only common feature is nystagmus, which occurs very early in their life. However, there are many factors related to the cause of nystagmus. In addition, due to many factors, including the young age of the children, the wide range of symptoms and great variability in presentations, it is challenging to make a correct diagnosis for the very rare Alström syndrome. With the exceptions of the Patients 01 and 03 who were considered to have Alström syndrome or Bardet-Biedl syndrome because they showed poor vision, nystagmus, photophobia, and obesity, the other three cases were not diagnosed as Alström syndrome initially. Patients with Alström syndrome are finally confirmed by molecular diagnosis. Because the characteristic features of Alström syndrome often become more evident as a child grows, molecular diagnosis is not only helpful for doctors to make diagnosis but also helpful for doctors to guide the affected children's parents to choose interventions in advance based on disease progression, for example, to prevent diabetes.
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child
Published in Ophthalmic Genetics, 2019
Shirel Weiss, Lior Cohen, Tamar Ben-Yosef, Miriam Ehrenberg, Nitza Goldenberg-Cohen
Alstrom syndrome is a heterogeneous genetic disease with variable expressivity, even within families. The biological function of the ALMS1 protein remains unclear, although localization to centrosomes and basal bodies of ciliated cells suggest apparent roles in ciliary function, intracellular trafficking and adipocyte differentiation (9,15). In our patient, follow-up evaluation more than 10 years after the initial finding of severely impaired vision revealed obesity, hypothyroidism, elevated transaminase levels, fatty liver, and acanthosis nigricans. This led to his referral for genetic testing which yielded a splice-site mutation in ALMS1 causing insertion of 73 bps to the mRNA.