Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Author:

Domínguez-Ruiz María,García-Martínez Alberto,Corral-Juan Marc,Pérez-Álvarez Ángel I.,Plasencia Ana M.,Villamar Manuela,Moreno-Pelayo Miguel A.,Matilla-Dueñas Antoni,Menéndez-González Manuel,del Castillo IgnacioORCID

Funder

Instituto de Salud Carlos III

Comunidad de Madrid

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference45 articles.

1. Perrault M, Klotz B, Housset E. Two cases of Turner syndrome with deaf-mutism in two sisters. Bull Mem Soc Med Hop Paris. 1951;67:79–84.

2. Newman WG, Friedman TB, Conway GS, Demain LAM. Perrault Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 2018. https://www.ncbi.nlm.nih.gov/books/NBK242617 . Accessed 6 Feb 2019.

3. Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet A. 2004;128A:246–9.

4. Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010;87:282–8.

5. Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA. 2011;108:6543–8.

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