Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2

American Journal of Medical Genetics, Part A

Volumn 173, Issue 4, 2017, Pages 1102-1108

  Moosa, Shahida ^a   Haagerup, Annette ^b,c   Gregersen, Pernille Axel ^b   Petersen, Karin Kastberg ^b   Altmüller, Janine ^d,e   Thiele, Holger ^e   Nürnberg, Peter ^e   Cho, Tae Joon ^f   Kim, Ok Hwa ^g   Nishimura, Gen ^h   Wollnik, Bernd ^a   Vogel, Ida ^b  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c West Regional Hospital   (Denmark)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f Seoul National University Children's Hospital   (South Korea)

^g Woorisoa Children s Hospital   (South Korea)

^h TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

CAGSSS; IARS2; mitochondrial disorder; SEMD; skeletal dysplasia

Indexed keywords

GROWTH HORMONE; ISOLEUCINE TRANSFER RNA LIGASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CATARACT GROWTH HORMONE DEFICIENCY SENSORY NEUROPATHY SENSORINEURAL HEARING LOSS SKELETAL DYSPLASIA SYNDROME; CESAREAN SECTION; CHILD; CONGENITAL CATARACT; DANISH CITIZEN; EYE EXAMINATION; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE DEFICIENCY; HIP DISLOCATION; HOMOZYGOTE; HUMAN; HYDROCEPHALUS; IARS2 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME; SCHOOL CHILD; SENSORY NEUROPATHY; SHORT STATURE; VALGUS KNEE; CATARACT; DEFICIENCY; EXOME; GENE EXPRESSION; GENETIC DISEASES, X-LINKED; GENETICS; HEARING LOSS, SENSORINEURAL; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HIGH THROUGHPUT SEQUENCING; MUTATION; OSTEOCHONDRODYSPLASIAS; PATHOLOGY; RADIOGRAPHY; SYNDROME;

CATARACT; CHILD; EXOME; FEMALE; GENE EXPRESSION; GENETIC DISEASES, X-LINKED; GROWTH HORMONE; HEARING LOSS, SENSORINEURAL; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; ISOLEUCINE-TRNA LIGASE; MUTATION; OSTEOCHONDRODYSPLASIAS; RADIOGRAPHY; SYNDROME;

EID: 85015928866     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38116     Document Type: Article

References (9)

1. Dikoglu, E., Alfaiz, A., Gorna, M., Bertola, D., Chae, J.H., Cho, T.-J., … Unger, S. (2015). Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. American Journal of Medical Genetics Part A, 167A, 1501–1509.
2. Jabbour, S., & Harissi-Dagher, M. (2016). Recessive mutation in a nuclear-encoded mitochondrial tRNA synthetase associated with infantile cataract, congenital neurotrophic keratitis, and orbital myopathy. Cornea, 35, 894–896.
3. Liberfarb, R.M., Jackson, A.H., Eavey, R.D., & Robb, R.M. (1993). Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency. Journal of Child Neurology, 8, 271–276.
4. Mierzewska, H., Rydzanicz, M., Biegański, T., Kosinska, J., Mierzewska-Schmidt, M., ługowska, A., … Płoski, R. (2017). Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation—A novel phenotype of the mitochondrial disease. Clinical Genetics, 91, 30–37.
5. Mordaunt, D.A., & Savaririyan, R. (2015). Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement? Human Mutation (Letter), 36, 388.
6. Royer-Bertrand, B., Castillo-Taucher, S., Moreno-Salinas, R., Cho, T.-J., Chae, J.-H., Choi, M., … Superti-Furga, A. (2015). Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Scientific Reports, 5, 17154.
7. Samuels, M.E., Alos, N., & Deal, C.L. (2015). Response to: Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement? Human Mutation, 36, 389.
8. Schwartzentruber, J., Buhas, D., Majewski, J., Sasarman, F., Papillon-Cavanagh, S., Thiffault I., … Samuels, M.E. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Human Mutation, 35, 1285–1289.
9. Strauss, K.A., Jinks, R.N., Puffenberger, E.G., Venkatesh, S., Singh, K., Cheng, I., … Suzuki, C.K. (2015). CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. American Journal of Human Genetics, 96, 121–135.