A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-019-0693-2.pdf
Reference16 articles.
1. Sarig O, Nahum S, Rapaport D, et al. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet. 2012;91:337–42.
2. Shaheen R, Faqeih E, Shamseldin HE, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91:330–6.
3. Chen J-H, Segni M, Payne F, et al. Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol. 2015;55:147–58.
4. Giorgio E, Rubino E, Bruselles A, et al. A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. Eur J Endocrinol. 2017;177:K21–K27.
5. Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.
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1. Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome;Reviews in Endocrine and Metabolic Disorders;2024-07-17
2. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling;European Journal of Endocrinology;2024-01-20
3. SOFT syndrome with Kohlschutter–Tonz syndrome;Journal of Postgraduate Medicine;2023-09-07
4. Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient;Frontiers in Genetics;2023-03-28
5. Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene;Ophthalmic Genetics;2022-08-05
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