Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

Poquérusse, Jessie; Whitford, Whitney; Taylor, Juliet; Alburaiky, Salam; Snell, Russell G.; Lehnert, Klaus; Jacobsen, Jessie C.

doi:10.1038/s10038-021-00955-5

Cited by 7 publications

(8 citation statements)

References 46 publications

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“…Values in bold underline are <20% of normal control mean and values in bold correspond to 20%-30% of normal control mean, corresponding to major and minor criteria in the Bernier diagnostic scheme. 14 Table S2. Summary of the CARS2 gene mutations revealed by whole-exome sequencing alongside their in silico predicted effects.…”

Section: Discussionmentioning

confidence: 99%

“…Trio whole‐exome sequencing (WES) of the patient's and parents' DNA was carried out postmortem using an Illumina HiSeq platform, as previously described 14 and as detailed in the online Supplementary Methods.…”

Section: Methodsmentioning

confidence: 99%

“…Activities are also shown as ratios to the activity of CS and complex II. Values in bold underline are <20% of normal control mean and values in bold correspond to 20%–30% of normal control mean, corresponding to major and minor criteria in the Bernier diagnostic scheme 14 …”

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confidence: 99%

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

et al. 2023

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confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

et al. 2023

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“…Birnbaum et al reported two male siblings with a novel PRMT7 homozygous deleterious variants and brain calcifications, delayed myelination and congenital orbital tumor (5). Finally, a very recent report by Poquérusse et al described a novel homozygous substitution in PRMT7 in two brothers from a consanguineous Iraqi family with associated compound heterozygous defects in the dysplasiaassociated perlecan-encoding HSPG2 gene (OMIM*142461) (6). No endocrine evaluation was performed in all these patients.…”

Section: Introductionmentioning

confidence: 99%

“…Auxological Data at baseline and after 1 and 2 years of rGH therapy Bone Age; 3 Height;4 Growth Velocity; 5 Target Height;6 Recombinant Growth Hormone; 7 Growth Hormone Deficiency; 8 Small for Gestational Age…”

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Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment

et al. 2022

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Protein arginine methyltransferase 7 (PRMT7) pathogenetic variants have been associated with the human disorder of Short Stature, Brachydactyly, Intellectual Developmental Disability and Seizures syndrome (SBIDDS). Only 15 cases have been described in the literature.Here we report two female dizygotic twins with novel compound heterozygous deleterious variants of PRMT7 and describe the associated endocrine manifestations and short-term response to recombinant growth hormone (rGH) treatment. They were born at 36+3 weeks from a dichorionic diamniotic twin pregnancy. Twin A was appropriate for gestational age while Twin B was small for gestational age. Whole exome sequencing analyses showed the same novel compound heterozygous genetic defects in the PRMT7 gene (c.1220G>A of maternal origin; c.1323+2T>G of paternal origin, Fig. 1). Due to severe short stature and growth impairment, at six years of age, endocrine investigations were performed to rule out growth hormone (GH) deficiency, and revealed GH deficiency (GHD) in Twin A and an appropriate GH response in Twin B. Therefore, both started rGH, albeit at different dosages according to the underlying diagnosis. Both showed a satisfactory short-term response to treatment with height gain (∆HT) of +0.52 SDS (Twin A) and +0.88 SDS (Twin B) during the first year. In conclusion, our findings expand the knowledge about the endocrine manifestations associated with PRMT7 pathogenetic variants, including GH deficiency and rGH response. Further studies are needed to investigate long-term outcomes and establish whether PRMT7 genetic defects can be included among syndromic short stature treatable with rGH.

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