Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia Article Swipe
Kathryn Dahir
,
Eric T. Rush
,
Daniel Beltrán
,
Scott Eisenbeis
,
Britt Johnson
,
Prameela Ramesan
,
Soodabeh Sarafrazi
,
Rebecca Truty
,
Nicole L. Miller
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1210/jendso/bvab048.533
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1210/jendso/bvab048.533
X-linked hypophosphatemia (XLH), a dominant disorder caused by a disease-associated variant in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb deformity, muscle pain and/or weakness/fatigue, bone pain, joint pain/stiffness, hearing difficulty, enthesopathy, osteoarthritis, and dental abscesses. Patients with XLH have below-normal serum phosphate and elevated serum FGF23. XLH is one of multiple etiologies of hypophosphatemia; depending on genetic cause, management may differ. Acquired hypophosphatemia (e.g. tumor induced osteomalacia) is non-hereditary in nature. This program provides a no-charge genetic test to confirm a clinical XLH diagnosis or to aid suspected genetic hypophosphatemia diagnosis. Patients aged >/= 6 months with either a clinical XLH diagnosis or suspicion of genetic hypophosphatemia, as evidenced by 2 or more clinical signs/ symptoms, were eligible for testing. The next generation sequencing panel includes 13 genes: ALPL, CLCN5, CYP2R1, CYP27B1, DMP1, ENPP1, FAH, FAM20C, FGF23, FGFR1, PHEX, SLC34A3 and VDR. Copy number variant detection was performed. 831 unrelated individuals were tested as of June 30, 2020. 569 (68.5%) of these subjects had a PHEX variant: 519 (91.2%) were either pathogenic or likely pathogenic (P/LP) and 50 (8.8%) were variants of uncertain significance (VUS). Of the 312 (37.5%) cases where no PHEX molecular diagnosis was found, 38 (12.2%) had molecular diagnoses associated with other genes/disorders: 4 had a variant (P/LP) in FGF23 (autosomal dominant [AD] hypophosphatemic rickets), 2 had two variants (P/LP) in CYP27B1 (autosomal recessive [AR] vitamin D dependent rickets), 1 had P/LP variants in ENPP1 (AR hypophosphatemic rickets Type 2). There were 27 cases with single P or LP variants in ALPL (AD hypophosphatasia, HPP); 4 cases carried two variants (P/LP) in ALPL (AR form). Of 237 unique P/LP PHEX variants detected: 59 were deletions, duplications or insertions; 37 were copy number variants; 52 were splice-site variants; 89 were single nucleotide variants. Additional family member testing/clinical information resulted in 48 cases having VUS reclassified to P/LP, highlighting the value of cascade family testing/clinical info to resolve VUS. RNA analyses to resolve VUS may further improve molecular diagnostic yield. Program results demonstrate a high diagnostic yield for XLH/ genetic hypophosphatemia and new insight into XLH-associated PHEX variants.
Related Topics
Concepts
PHEX
Hypophosphatemia
Osteomalacia
Short stature
Medicine
Hypophosphatemic Rickets
Rickets
Internal medicine
Endocrinology
Pediatrics
Gastroenterology
Vitamin D and neurology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1210/jendso/bvab048.533
- OA Status
- gold
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4205284266
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4205284266Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1210/jendso/bvab048.533Digital Object Identifier
- Title
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Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic HypophosphatemiaWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2021Year of publication
- Publication date
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2021-05-01Full publication date if available
- Authors
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Kathryn Dahir, Eric T. Rush, Daniel Beltrán, Scott Eisenbeis, Britt Johnson, Prameela Ramesan, Soodabeh Sarafrazi, Rebecca Truty, Nicole L. MillerList of authors in order
- Landing page
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https://doi.org/10.1210/jendso/bvab048.533Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1210/jendso/bvab048.533Direct OA link when available
- Concepts
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PHEX, Hypophosphatemia, Osteomalacia, Short stature, Medicine, Hypophosphatemic Rickets, Rickets, Internal medicine, Endocrinology, Pediatrics, Gastroenterology, Vitamin D and neurologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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