A case of hyperphosphatemic familial tumoral calcinosis due to maternal          uniparental disomy of a &lt;i&gt;GALNT3&lt;/i&gt; variant

Nishimura-Kinoshita, Naoko; Ohata, Yasuhisa; Sawai, Hiromi; Izawa, Masako; Takeyari, Shinji; Kubota, Takuo; Omae, Yosuke; Ozono, Keiichi; Tokunaga, Katsushi; Hamajima, Takashi

doi:10.1297/cpe.2022-0071

Clin Pediatr Endocrinol

2023

DOI: 10.1297/cpe.2022-0071

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A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant

Naoko Nishimura-Kinoshita

Yasuhisa Ohata

Hiromi Sawai

et al.

Abstract: Highlights• We report the first case of HFTC caused by maternal UPD of the GALNT3 variant.• A novel GALNT3 variant was predicted as an alteration of the acceptor site.• GALNT3 mRNA analysis confirmed the deletion of exon 11.

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2024

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Cited by 3 publications

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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Kelkar,

DiMaio,

et al. 2024

Glob Med Genet

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We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic pathogenic variants in SPR lead to sepiapterin reductase deficiency (SRD), a dopa-responsive dystonia. Pathogenic variants in ZNF142 are associated with an autosomal recessive neurodevelopmental disorder characterized by impaired speech and hyperkinetic movements, which has significant clinical overlap with SRD. Our patient showed dramatic improvement in motor skills after treatment with levodopa. We also reviewed 67 published reports of uniparental disomy of chromosome 2 (UPD2) associated with various clinical outcomes. These include autosomal recessive disorders associated with loci on chromosome 2, infants with UPD2 whose gestations were associated with confined placental mosaicism for trisomy 2 leading to intrauterine growth restriction with good postnatal catchup growth, and normal phenotypes in children and adults with an incidental finding of either maternal or paternal UPD2. These latter reports provide support for the conclusion that genes located on chromosome 2 are not subject to imprinting. We also explore the mechanisms giving rise to UPD2.

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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Kelkar,

DiMaio,

et al. 2024

Glob Med Genet

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Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) in a One-Year-Old Child: A Case Report and Literature Review

Shakiba,

Karimi,

Ghomi

et al. 2024

Arch Pediatr Infect Dis

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Introduction: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is a rare autosomal recessive metabolic disorder characterized by abnormal phosphate regulation and soft tissue calcifications. Early diagnosis is crucial for optimal management to prevent complications. Case Presentation: A one-year-old child presented with intermittent fevers and a gluteal mass. Ultrasound revealed a calcified abscess, and biopsy confirmed a pseudocyst. Further workup identified elevated blood calcium, phosphorus, and neutropenia. The patient was ultimately diagnosed with HFTC. Discussion: Early diagnosis of HFTC is challenging due to the rarity of the disease and the potential for non-specific initial symptoms. This case highlights the importance of considering HFTC in the differential diagnosis for a young child with unexplained soft tissue masses or skeletal abnormalities, even outside the usual age range. Conclusions: This case report emphasizes the need for a high index of suspicion for HFTC in pediatric patients with suggestive clinical features, regardless of age. Early diagnosis and prompt intervention are essential to improve long-term outcomes and prevent complications.

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Type 1 Hyperphosphatemic Familial Tumoral Calcinosis Associated With a Homozygous Variant Mutation in the GALNT3 Gene

Alghubishi,

Ghazwani,

Abdelmogeit

et al. 2024

Cureus

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Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare genetic disorder characterized by abnormal phosphate metabolism leading to hyperphosphatemia and calcific deposits in soft tissues. Chronic recurrent multifocal osteomyelitis (CRMO) can be challenging to diagnose and manage, especially in the context of underlying genetic conditions. This case report presents a case of a 12-year-old girl with a complex presentation involving osteomyelitis and a rare genetic disorder. This 12-year-old girl was referred by the orthopedic team for evaluation of right tibial osteomyelitis based on MRI findings. She had experienced painful swelling, redness, and increased warmth in her right thigh a month prior, which improved with a nonsteroidal anti-inflammatory drug (NSAID) (Ibuprofen) alone. She became asymptomatic without the need for antibiotics and did not have a fever or respiratory symptoms during this episode. The physical examination revealed an alert and oriented patient with no dysmorphic features. Notable findings included a scar on the right thigh from the previous surgery and multiple small lesions on the pubic area. Her height and weight were appropriate for her age. MRI suggested right tibial osteomyelitis. Laboratory studies showed hyperphosphatemia and whole exome sequencing (WES) identified HFTC type 1. The patient’s presentation of right tibial osteomyelitis, initially thought to be CRMO, was ultimately explained by the diagnosis of HFTC type 1, as revealed by WES. This genetic condition, associated with hyperphosphatemia and calcific deposits, accounts for her recurrent osteomyelitis, systemic symptoms, and previous bone tumor history. Management should focus on addressing phosphate imbalances and monitoring for related complications, with input from a geneticist and a specialist in metabolic bone disorders to guide comprehensive care.

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A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <i>GALNT3</i> variant

Abstract: Highlights• We report the first case of HFTC caused by maternal UPD of the GALNT3 variant.• A novel GALNT3 variant was predicted as an alteration of the acceptor site.• GALNT3 mRNA analysis confirmed the deletion of exon 11.

Cited by 3 publications

References 22 publications

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) in a One-Year-Old Child: A Case Report and Literature Review

Type 1 Hyperphosphatemic Familial Tumoral Calcinosis Associated With a Homozygous Variant Mutation in the GALNT3 Gene

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