ESPE Abstracts (2016) 86 P-P1-373

ESPE2016 Poster Presentations Gonads & DSD P1 (48 abstracts)

Compound Heterozygous C10orf2 Mutations in a Japanese Patient with 46,XX Ovarian Failure and Deafness

Keisuke Nagasaki , Hiromi Nyuzuki , Sunao Sasaki , Hidetoshi Sato & Yohei Ogawa

Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan

Background: Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing deafness in both sexes and primary ovarian failure in 46, XX karyotype females. HSD17B4, HARS2, LARS2, CLPP and C10orf2, which associated mitochondrial function, are reported as causative genes.

Objective and hypotheses: Here we reported on a Japanese patient who identified C10orf2 mutation with the fourth patient in Perrault syndrome.

Method: The patient was referred to our hospital due to short stature at the age of 12 years old. She showed proportionate short stature with a height of 129.6 cm (−3.1 S.D.) and exhibited hearing difficulty at school medical check-up. Her growth hormone and thyroid functions were normal, however LH and FSH levels were unusually elevated. Her karyotype was 46, XX. She was diagnosed with ovarian failure and sensorineural hearing deafness, namely Perrault syndrome. She has been treated with estrogen replacement therapy since 13-year-old, and her height finally reached 160 cm.

Results: Molecular analyses identified compound heterozygous C10orf2 mutations consisting of c.1172G>A (p.Arg391His) on the maternal allele and c.1136G>A (p.Gly379Glu) on the paternal allele, and no pathologic mutations were detected for HARS2, LARS2, and CLPP. The former mutation was previously reported in a Japanese patient, and the latter novel mutation, which is located in linker domain, might be pathogenic mutation based on the in silico analyses.

Conclusion: C10orf2 mutations should be considered in patients for ovarian failure with the sensorineural deafness. This is the first report of a mutation at linker domain in Perrault syndrome.

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