Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series

Rodrigo-Nicolás, Beatriz; Bueno-Martínez, Elena; Martín‐Santiago, A.; Cañueto, Javier; Vicente, A.; Torrelo, Antonio; Noguera‐Morel, Lucero; Duat-Rodríguez, Anna; Jorge-Finnigan, Conrado; Palacios-Álvarez, Irene; García-Hernández, Juan L.; Sebaratnam, Deshan F; González-Sarmiento, Rogelio; Hernández‐Martín, Ángela

doi:10.1111/bjd.16826

Cited by 26 publications

(31 citation statements)

References 63 publications

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“…Additionally, most female carriers of XLI are reported to have no detectable clinical symptoms, and scales are rarely seen in the skin. It has been reported that neuropsychiatric disorders predominantly occur in male patients with XLI, and there are few reports regarding the development of neuropsychiatric symptoms in female carriers of XLI . The pregnant woman in Pedigree 4 was a carrier of XLI and had clinical manifestations of risibility, impaired verbal communication, and mental retardation; however, the associations of these clinical symptoms with the deletion of the STS gene remained unknown.…”

Section: Discussionmentioning

confidence: 99%

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Zhang

Huang

Lin

et al. 2020

Clinical Laboratory Analysis

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Background X‐linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. Methods In this study, chromosome karyotype analysis, bacterial artificial chromosomes‐on‐Beads™ (BoBs) assay, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP‐array) were employed for the prenatal diagnoses in three pregnant women with high‐risk serological screening results and a pregnant woman with mental retardation. Results STS deletion was identified at chromosome Xp22.31 in all four fetuses. Postnatal follow‐up confirmed the diagnosis of ichthyosis in two male fetuses and revealed normal dermatological manifestations in other two female fetuses carrying ichthyosis. Conclusion The results of the present study demonstrate that a combination of karyotypying, prenatal BoBs, FISH, and SNP‐array may avoid the missed detection of common microdeletions and ensure the accuracy of the detection results, which provides a feasible tool for the reliable etiological diagnosis and better genetic counseling of XLI.

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Section: Discussionmentioning

confidence: 99%

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Zhang

Huang

Lin

et al. 2020

Clinical Laboratory Analysis

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“…While seizures and intellectual disabilities have been described with Xp22.3 deletions in males, catastrophic seizures and strokes have not. 11,12,14 The presence of large contiguous regions of homozygosity (usually more than 10 MB) on an isolated chromosome normally is suggestive of UPD. 22 Due to the occurrence of chiasma and recombination between homologs during meiosis, observation of UPD usually manifests as a mixture of uniparental isodisomy (presence of identical parental homologs) and heterodisomy segments (presence of both parental homologs).…”

Section: Discussionmentioning

confidence: 99%

Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression

et al. 2020

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We present here a patient with Klinefelter syndrome (KS) (47,XXY) who had maternal nondisjunction and uniparental disomy of the X chromosome with regions of heterodisomy and isodisomy, an interstitial Xp22.31 deletion of both X chromosomes, and other problems. His mother also possesses the same Xp22.31 deletion. The patient presented with status epilepticus and stroke, followed by severe brain atrophy and developmental regression. His unusual clinical and cytogenetic findings apparently have not been reported with either KS or Xp22.31 deletions. Based on the patient's available genetic and biochemical information, we cannot satisfactorily explain his seizures, strokes, or catastrophic brain regression.

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“…In our adopted girl, the unavailability of personal and family histories, in particular the patient's age at disease onset, its course, and the likely presence of an affected father, have hampered clinical diagnosis. On the other hand, sparing of palmoplantar surfaces is considered one of the most reliable clinical findings supporting a diagnosis of XLI (1,4,13). Clinical features were detailed in only 4 out of 8 previously reported cases of XLI in females (8,10,11).…”

Section: Discussionmentioning

confidence: 99%

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

et al. 2019

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Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series

Cited by 26 publications

References 63 publications

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

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