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Diagnosis of Rare Genetic Disorders
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Diagnosis of Rare Genetic Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (5 September 2023) | Viewed by 4517

Special Issue Editor

Dr. Miao Sun

E-Mail Website
Guest Editor
Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA 90027, USA
Interests: rare mendelian diseases; molecular genetics; clinical diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Advances in sequencing technologies have improved genetic diagnosis by increasing diagnostic yield, decreasing the time to reach a diagnosis, and lowering the cost for patients and healthcare systems. Over the past decade, next-generation sequencing (NGS)-based exome and genome sequencing have proven powerful in the diagnosis of patients with rare nonspecific clinical features. Particularly, discoveries of new disease genes have improved our knowledge of the genetic etiologies of many previously undiagnosed human diseases, which in turn advances our understanding of the disease mechanisms and makes it possible to develop potential treatment of the diseases.   

In this Special Issue, we welcome original articles and reviews covering aspects of new disease genes, novel methodologies of diagnosing rare genetic disorders, and potential treatment of genetic diseases. These include, but are not limited to, studies related to novel disease gene discoveries, expanded disease phenotypes, disease–gene relationship, novel disease mechanisms, and treatment. We also welcome studies on methodologies relevant to the diagnosis of rare genetic disorders (lab approaches, functional studies, animal models, bioinformatics and artificial intelligence, causal analyses, and others).

Dr. Miao Sun
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • nucleotide DNA
  • mitochondrial DNA
  • human disease
  • mendelian diseases
  • copy number variation
  • molecular genetics
  • chromosome abnormality
  • genetic genealogy
  • epigenetics
  • causal analyse
  • bioinformatics
  • animal models
  • functional studies

Published Papers (3 papers)

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Research

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13 pages, 4387 KiB  
Article
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
by Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan and Outi Mäkitie
Genes 2023, 14(4), 869; https://doi.org/10.3390/genes14040869 - 05 Apr 2023
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Abstract
Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits. Postaxial polydactyly (PAP) is the most common form and includes two main types: PAP type A (PAPA) and PAP type [...] Read more.
Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits. Postaxial polydactyly (PAP) is the most common form and includes two main types: PAP type A (PAPA) and PAP type B (PAPB). Type A involves a well-established extra digit articulated with the fifth or sixth metacarpal, while type B presents a rudimentary or poorly developed superfluous digit. Pathogenic variants in several genes have been identified in isolated and syndromic forms of polydactyly. The current study presents two Pakistani families with autosomal recessive PAPA with intra- and inter-familial phenotype variability. Whole-exome sequencing and Sanger analysis revealed a novel missense variant in KIAA0825 (c.3572C>T: p.Pro1191Leu) in family A and a known nonsense variant in GLI1 (c.337C>T: p.Arg113*) in family B. In silico studies of mutant KIAA0825 and GLI1 proteins revealed considerable structural and interactional modifications that suggest an abnormal function of the proteins leading to the disease phenotype. The present study broadens the mutational spectrum of KIAA0825 and demonstrates the second case of a previously identified GLI1 variant with variable phenotypes. These findings facilitate genetic counseling in Pakistani families with a polydactyly-related phenotype. Full article
(This article belongs to the Special Issue Diagnosis of Rare Genetic Disorders)
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Review

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12 pages, 2629 KiB  
Review
Children with Rare Nager Syndrome—Literature Review, Clinical and Physiotherapeutic Management
by Bożena Anna Marszałek-Kruk, Andrzej Myśliwiec, Anna Lipowicz, Wojciech Wolański, Małgorzata Kulesa-Mrowiecka and Krzysztof Dowgierd
Genes 2024, 15(1), 29; https://doi.org/10.3390/genes15010029 - 24 Dec 2023
Viewed by 1403
Abstract
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare [...] Read more.
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the SF3B4 gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases. The diagnosis is made on the basis of physical and radiological examination and detection of mutations in the SF3B4 gene. Due to the diversity of defects associated with Nager syndrome, patients require multidisciplinary, complex, and long-lasting treatment. Usually, it starts from birth until the age of twenty years. The surgical procedures vary over a patient’s lifetime and are related to the needed function. First, breathing and feeding must be facilitated; then, oral and facial clefts should be addressed, followed by correcting eyelid deformities and cheekbone reconstruction. In later age, a surgery of the nose and external ear is performed. Speech and hearing disorders require specialized logopedic treatment. A defect of the thumb is treated by transplanting a tendon and muscle or transferring the position of the index finger. In addition to surgery, in order to maximize a patient’s benefit and to reduce functional insufficiency, complementary treatments such as rehabilitation and physiotherapy are recommended. In our study, we describe eight patients of different ages with various cases of Nager syndrome. The aim of our work was to present the actual genetic knowledge on this disease and its treatment procedures. Full article
(This article belongs to the Special Issue Diagnosis of Rare Genetic Disorders)
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Other

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14 pages, 2265 KiB  
Case Report
Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies—Expanding the Phenotype
by Noor Almoosawy, Fawaz Albaghli, Haya H. Al-Balool, Hanan Fathi, Waleed A. Zakaria, Mariam Ayed and Hind Alsharhan
Genes 2023, 14(6), 1225; https://doi.org/10.3390/genes14061225 - 05 Jun 2023
Viewed by 1153
Abstract
Interstitial deletions in the long arm of chromosome 3, although relatively rare, have previously been reported to be associated with several congenital anomalies and developmental delays. Around 11 individuals with interstitial deletion spanning the region 3q21 were reported to have overlapping phenotypes, including [...] Read more.
Interstitial deletions in the long arm of chromosome 3, although relatively rare, have previously been reported to be associated with several congenital anomalies and developmental delays. Around 11 individuals with interstitial deletion spanning the region 3q21 were reported to have overlapping phenotypes, including craniofacial dysmorphism, global developmental delay, skeletal manifestations, hypotonia, ophthalmological abnormalities, brain anomalies (mainly agenesis of corpus callosum), genitourinary tract anomalies, failure to thrive and microcephaly. We present a male individual from Kuwait with a 5.438 Mb interstitial deletion of the long arm of chromosome 3 (3q21.1q21.3) detected on the chromosomal microarray with previously unreported features, including feeding difficulties, gastroesophageal reflux, hypospadias, abdomino-scrotal hydrocele, chronic kidney disease, transaminitis, hypercalcemia, hypoglycemia, recurrent infections, inguinal hernia and cutis marmorata. Our report expands the phenotype associated with 3q21.1q21.3 while summarizing the cytogenetics and clinical data of the previously reported individuals with interstitial deletions involving 3q21, thus providing a comprehensive phenotypic summary. Full article
(This article belongs to the Special Issue Diagnosis of Rare Genetic Disorders)
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