2021
DOI: 10.1186/s13039-021-00531-8
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Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene

Abstract: Background Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we carried out a molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was a boy of 1-year-old, presented a typical WHS phenotype while patient 2, is a boy of 2 days presented an hypospadias, a micropenis and a cryptorchidie in addition to the typical WHS phenotype. B… Show more

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Cited by 8 publications
(3 citation statements)
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“…It also plays roles in the limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with non-syndromic cleft lip, with or without cleft palate, Witkop syndrome, Wolf-Hirschhorn syndrome, and autosomal dominant hypodontia [45][46][47][48]. The second SNP (rs8137145) showed a p-value of 6.4 × 10 −6 , suggesting an association with protection against hypertension.…”
Section: Discussionmentioning
confidence: 99%
“…It also plays roles in the limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with non-syndromic cleft lip, with or without cleft palate, Witkop syndrome, Wolf-Hirschhorn syndrome, and autosomal dominant hypodontia [45][46][47][48]. The second SNP (rs8137145) showed a p-value of 6.4 × 10 −6 , suggesting an association with protection against hypertension.…”
Section: Discussionmentioning
confidence: 99%
“…CGH 4x44K micro-array was performed using the agilent platform as previously described ( 11 , 12 ). Agilent ® oligonucleotide array was performed according to the manufacturer’s instructions (Agilent Human Genome CGH Microarray kit 44K ® ).…”
Section: Methodsmentioning
confidence: 99%
“…Deletion of the LETM1 gene appears to be associated with WHS-associated seizure disorder ( 14), (15), however haploinsu ciency of LETM1 independently appears insu cient in epileptogenesis and seizure genesis (16). There is growing evidence that loss of the MSX1 gene [(OMIM 142983) located proximal to 4p16.3, on 4p16.2] may be responsible for the dental abnormalities as well as cleft lip and/or palate that can be seen in WHS (17), (18). The potential role(s) of other genes around the 4p16.3 region are subjects of ongoing investigations.…”
Section: Introductionmentioning
confidence: 99%