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• W2792291646 abstract "<b><i>Background:</i></b> In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. <b><i>Patients and Methods:</i></b> Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and <i>DHH</i> exons sequenced and analyzed. A comparative genomic hybridization array was also performed. <b><i>Results:</i></b> In both the 46,XY and 46,XX sisters, a homozygous c.554C&#x3e;A mutation in exon 2 of the <i>DHH</i> gene was found, determining a premature termination codon (p.Ser 185*). Heterozygous consanguineous carrier parents showed neither reproductive problems nor peripheral neuropathy. In the proband and her sister, a 499-kb duplication in 9p22.1 was also found. <b><i>Conclusion:</i></b> A 46,XY European woman with 46,XY GD and a novel homozygous <i>DHH</i> pathogenic variant is reported, confirming that this gene plays a key role in male gonadal development. Her 46,XX sister, harboring the same mutation, showed normal internal and external female phenotype. Thus, <i>DHH</i> seems not to be involved in the ovarian development pathway or its postpubertal function. Homozygous <i>DHH</i> mutations cause a specific peripheral neuropathy in humans with both 46,XY and 46,XX karyotypes." @default.
• W2792291646 created "2018-03-29" @default.
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• W2792291646 date "2018-01-01" @default.
• W2792291646 modified "2023-09-27" @default.
• W2792291646 title "Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review" @default.
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• W2792291646 doi "https://doi.org/10.1159/000485507" @default.
• W2792291646 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29471294" @default.
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