Partial albinism and immunodeficiency in patients with Hermansky‐Pudlak Type II: Introducing 2 novel mutations

Alizadeh, Zahra; Nabilou, Susan; Mazinani, Marzieh; Tajik, Shaghayegh; Hamidieh, Amir Ali; Houshmand, Massoud; Fazlollahi, Mohammad Reza; Pourpak, Zahra

doi:10.1111/sji.12966

Cited by 9 publications

(10 citation statements)

References 12 publications

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“…GS2 is characterized by partial albinism (hypopigmentation), and frequent pyogenic infections with immunodeficiency. Besides GS2, oculocerebral hypopigmentation is prevalent in CHS, Elejalde syndrome and other syndromes cross types 20,21 . We presented clinical features and molecular analysis of 18 patients with GS2.…”

Section: Discussionmentioning

confidence: 99%

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

et al. 2023

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Section: Discussionmentioning

confidence: 99%

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

et al. 2023

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“…Making the differential diagnosis of these three syndromes could be challenging. Table 2 showed the main differences among these three disorders [4,[7][8][9].…”

Section: Discussionmentioning

confidence: 99%

Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion

Ortíz

Ruxmohan

Alzamora

et al. 2021

Cureus

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Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis.We present a GS type 1 (GS1) case with developmental delay, hypotonia, and refractory seizures despite multiple medications, which included clobazam, cannabinol, zonisamide, and a ketogenic diet. Lacosamide and levetiracetam were added to the treatment regimen, which decreased the seizures' frequency from 10 per day to five per day. The patient had an MYO5A mutation and, remarkably, a deletion on 18p11.32p11.31. The deletion was previously reported in a patient with refractory seizures and developmental delay. We reviewed all cases of GS that presented with seizures. We reviewed other cases of GS and seizures described in the literature and explored possible seizure mechanisms in GS. Seizure in GS1 seems to be related directly to the MYO5A mutation.The neurological manifestations in GS2 seem to be caused indirectly by the accelerated phase of Hemophagocytic syndrome (HPS), which is characteristic of GS2. By having the MYO5A gene mutation combined with the 18p11.32p11.31 deletion, the prognosis and severity of the patient's condition are poor. This is the first report of GS1 with a deletion in 18p11.32p11.31.

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“…The gene responsible for Hermansky–Pudlak type 2, AP3B1 , is located on the long arm of chromosome 5 (5q14.1) and encodes the β3A subunit of the AP-3 complex [ 120 ]. Few cases of SVs in this genomic location are described in the literature.…”

Section: Svs In Lsdsmentioning

confidence: 99%

“…The first one, characterized in 2006, consists of a homozygous deletion of AP3B1 exon 15 (8168 bp), which completely abrogates the proper assembly and the stability of the AP-3 complex [ 121 ]. More recently, exon–exon analysis revealed a deletion of single exon 14 and exons 10–25 in two patients with Hermansky–Pudlak type 2 [ 120 ]. A consanguineous female infant with reduced pigmentation, neutropenia and recurrent infections was shown to carry a homozygous pericentric inversion inv(5)(p15.1q14.1) that likely disrupts AP3B1 at the breakpoint, thus providing a novel pathogenic mechanism for this disease [ 122 ].…”

Section: Svs In Lsdsmentioning

confidence: 99%

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

Cognata¹,

Cavallaro²

2022

Biomedicines

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Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the cells. Although biochemical enzymatic assays are considered the gold standard for diagnosis of symptomatic patients, genotyping is a requirement for inclusion in enzyme replacement programs and is a prerequisite for carrier tests in relatives and DNA-based prenatal diagnosis. The emerging next-generation sequencing (NGS) technologies are now offering a powerful diagnostic tool for genotyping LSDs patients by providing faster, cheaper, and higher-resolution testing options, and are allowing to unravel, in a single integrated workflow SNVs, small insertions and deletions (indels), as well as major structural variations (SVs) responsible for the pathology. Here, we summarize the current knowledge about the most recurrent and private SVs involving LSDs-related genes, review advantages and drawbacks related to the use of the NGS in the SVs detection, and discuss the challenges to bring this type of analysis in clinical diagnostics.

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Partial albinism and immunodeficiency in patients with Hermansky‐Pudlak Type II: Introducing 2 novel mutations

Cited by 9 publications

References 12 publications

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

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