BACKGROUND: The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous. CASE: We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. We detected 14 single nucleotide variations including 2 homozygous missense change of c.317G>A (p.Arg106His) and c.1675A>G (p.Ile559Val) in HSD17B4. No significant mutation in HARS2 and PSMC3IP, and gene copy number variant were found as the cause of Perrault syndrome. SUMMARY AND CONCLUSION: Mutations in HARS2, HSD17B4, and PSMC3IP genes do not explain Perrault syndrome in our patient, indicating that other critical genes remain to be identified.
BACKGROUND: The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous. CASE: We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. We detected 14 single nucleotide variations including 2 homozygous missense change of c.317G>A (p.Arg106His) and c.1675A>G (p.Ile559Val) in HSD17B4. No significant mutation in HARS2 and PSMC3IP, and gene copy number variant were found as the cause of Perrault syndrome. SUMMARY AND CONCLUSION: Mutations in HARS2, HSD17B4, and PSMC3IP genes do not explain Perrault syndrome in our patient, indicating that other critical genes remain to be identified.
Authors: Rabia Faridi; Alessandro Rea; Cristina Fenollar-Ferrer; Raymond T O'Keefe; Shoujun Gu; Zunaira Munir; Asma Ali Khan; Sheikh Riazuddin; Michael Hoa; Sadaf Naz; William G Newman; Thomas B Friedman Journal: Hum Genet Date: 2021-08-02 Impact factor: 4.132