Mosaicism in 2 cases of X-linked hypophosphatemia

Broseta, José Jesús; López-Romero, Luis Carlos; Cerón, Juan Antonio; Mendizábal, Santiago; Hernández-Jaras, Julio

doi:10.1016/j.endien.2020.01.001

Cited by 1 publication

(2 citation statements)

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“…Other earlier findings of mosaicism in XLH have also been seen. [6][7][8][9][10] Capillary sequencing is currently the gold standard method to detect germline variants. Mosaic variants had been previously detected mainly in XLH males with capillary sequencing, 8,13 when the "heterozygous" variant appeared in the chromatograms of the X-linked PHEX gene.…”

Section: Discussionmentioning

confidence: 99%

“…4 These germline mutations in the PHEX gene are identified using the commonly used capillary sequencing and multiplex ligation-dependent probe amplification (MLPA) techniques in the molecular diagnostic laboratories. There has been a growing body of literature reporting genetic mosaicism in XLH cases [6][7][8][9][10] in which existing technologies could potentially miss the pathogenic variants with low allelic frequency. A recent consensus statement from clinical experts recommends molecular genetic analysis for the confirmation of XLH diagnosis whenever possible.…”

Section: Diagnosismentioning

confidence: 99%

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A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl

et al. 2021

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Pathogenic variants in the PHEX gene are causative of X-linked hypophosphatemic rickets (XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu varum and short stature without any family history of XLH. Next generation sequencing of the PHEX gene identified a splice donor variant, NM_000444.6:c.1173 + 5G > A in intron 10. This variant had a mosaic pattern with only 22% of the sequence reads showing the variant allele and was not present in the girl's parents, both of whom had a normal phenotype. This is a sporadic case of a de novo mosaic splice-site variant in the PHEX gene.

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