A Novel Nonsense Mutation in Exon 1 of &lt;b&gt;&lt;i&gt;HSD17B3&lt;/i&gt;&lt;/b&gt; Gene in an Egyptian 46,XY Adult Female Presenting with Primary Amenorrhea

Hassan, Heba; Mazen, Inas; Gad, Yehia Z.; Ali, Ola; Mekkawy, Mona; Essawi, Mona

doi:10.1159/000351822

Cited by 8 publications

(4 citation statements)

References 14 publications

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“…We have previously reported a nonsense mutation in exon 1 in a 46,XY patient with primary amenorrhea [Hassan et al, 2013]. Adding the reported mutation to those in the current study revealed that 50% of the mutation carrying alleles (11/22 alleles) among the studied probands were novel ( fig.…”

Section: Discussionsupporting

confidence: 51%

“…table 1). These include 4 nonsense mutations and 4 exonic deletions that result in premature stop codons [George et al, 2010;Alikasifoglu et al, 2012;Ben Rhouma et al, 2013;Hassan et al, 2013;Al-Sinani et al, 2015;Sagsak et al, 2015;Tuhan et al, 2015]. Also, a large duplication spanning from intron 2 to intron 10 was reported twice, both in a heterozygous pattern [Neocleous et al, 2012;Massanyi et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

“…Also, a large duplication spanning from intron 2 to intron 10 was reported twice, both in a heterozygous pattern [Neocleous et al, 2012;Massanyi et al, 2013]. Only 9 coding exons (excluding exons 4 and 7) and 4 introns (introns 3, 6, 7 and 8) of the gene had reported missense or splice site mutations [George et al, 2010;Hassan et al, 2013;Ellaithi et al, 2014;Demir et al, 2015].…”

Section: Discussionmentioning

confidence: 99%

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Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency

Hassan

Mazen²,

Gad³

et al. 2016

Sex Dev

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This study aimed at the detection of HSD17B3 gene mutations in Egyptian patients with suspected diagnosis of 46,XY DSD due to 17-β-HSD-3 deficiency and at evaluation of phenotype/genotype relationship of these mutations. The study was conducted on 11 patients of 10 families which were provisionally diagnosed to have 17-β-HSD-3 enzyme deficiency. Karyotyping, hormonal evaluation of testosterone, Δ4-androstenedione, and dihydrotestosterone, and sequencing analysis of the 11 exons of the HSD17B3 gene were done. Mutations in HSD17B3 were detected in exons 2, 7, 8, 10, and 11, and 6 novel mutations were determined in exons 1, 2, 7, and 8. Two patients showed compound heterozygous mutations, while 8 families had probands with homozygous mutations. The current study shows that 17-β-HSD-3 deficiency is not an uncommon disorder among Egyptian DSD cases. It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency

Hassan

Mazen²,

Gad³

et al. 2016

Sex Dev

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“…Sixty-eight articles reported one or more patients with HSD17B3 mutations ( Supplemental Table S1 ) [ 1 , 3 , 4 , 5 , 9 , 10 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 ...…”

Section: Resultsmentioning

confidence: 99%

Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients

Gonçalves

Carriço

Bastos

et al. 2022

IJMS

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The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal testis, resulting in a Disorder of Sex Development (DSD). We describe a child raised as a female in whom the discovery of testes in the inguinal canals led to a genetic study by whole exome sequencing (WES) and to the identification of a compound heterozygous mutation of the HSD17B3 gene (c.608C>T, p.Ala203Val, and c.645A>T, p.Glu215Asp). Furthermore, we review all HSD17B3 mutations published so far in cases of 17-β-HSD3 deficiency. A total of 70 different HSD17B3 mutations have so far been reported in 239 patients from 187 families. A total of 118 families had homozygous mutations, 63 had compound heterozygous mutations and six had undetermined genotypes. Mutations occurred in all 11 exons and were missense (55%), splice-site (29%), small deletions and insertions (7%), nonsense (5%), and multiple exon deletions and duplications (2%). Several mutations were recurrent and missense mutations at codon 80 and the splice-site mutation c.277+4A>T each represented 17% of all mutated alleles. These findings may be useful to those involved in the clinical management and genetic diagnosis of this disorder.

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